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h1: CSER-bake off node
p: The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) have initiated a Clinical Sequencing Exploratory Research (CSER) program to support multidimensional research in this area. CSER conducts bake-off experiments where overlapping set of variants are curated by leading clinical-genetics testing centers. The evidence tags populated by curators and generated assertions are systematically compared with the assertion generated by pathogenicity calculator, a key component of ClinGenKB infrastructure.
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h1: CSER Bake off summary
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Allele | site1 | site2 | site3 | site4 | site5 | site6 | site7 | site8 | site9 |
CA090928 | Likely Pathogenic | Pathogenic | Likely Pathogenic | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Likely Pathogenic |
CA090905 | Benign | Benign | Benign | ||||||
CA090899 | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
CA000387 | Pathogenic | Pathogenic | Likely Pathogenic | ||||||
CA008761 | Uncertain Significance | Uncertain Significance | Benign | ||||||
CA008351 | Benign | Likely Benign | Benign | ||||||
CA090925 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090945 | Likely Pathogenic | Pathogenic | Uncertain Significance | ||||||
CA012936 | Pathogenic | Uncertain Significance | Likely Pathogenic | ||||||
CA009809 | Likely Benign | Benign | Uncertain Significance | ||||||
CA090921 | Pathogenic | Benign | Uncertain Significance | ||||||
CA090917 | Pathogenic | Pathogenic | Pathogenic | ||||||
CA090913 | Likely Pathogenic | Pathogenic | Likely Pathogenic | ||||||
CA090943 | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
CA021744 | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | ||||||
CA090947 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090941 | Uncertain Significance | Uncertain Significance | Likely Pathogenic | ||||||
CA090914 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
CA008448 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090939 | Uncertain Significance | Uncertain Significance | Uncertain Significance | Uncertain Significance | Uncertain Significance | Uncertain Significance | Likely Pathogenic | Uncertain Significance | Uncertain Significance |
CA002038 | Likely Benign | Benign | Uncertain Significance | ||||||
CA090940 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA000204 | Pathogenic | Pathogenic | Likely Pathogenic | ||||||
CA090898 | Likely Pathogenic | Pathogenic | Pathogenic | ||||||
CA009190 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090942 | Uncertain Significance | Likely Pathogenic | Uncertain Significance | ||||||
CA090888 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA021817 | Benign | Uncertain Significance | Likely Benign | ||||||
CA020822 | Uncertain Significance | Likely Benign | Likely Benign | Likely Benign | Likely Benign | Likely Benign | Uncertain Significance | Likely Benign | Likely Benign |
CA013604 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
CA024433 | Uncertain Significance | Likely Benign | Likely Benign | ||||||
CA016212 | Benign | Benign | Likely Benign | ||||||
CA024057 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA011761 | Pathogenic | Pathogenic | Likely Pathogenic | ||||||
CA090884 | Pathogenic | Pathogenic | Pathogenic | Pathogenic | Likely Pathogenic | Pathogenic | Likely Pathogenic | Uncertain Significance | Uncertain Significance |
CA090903 | Likely Pathogenic | Pathogenic | Likely Pathogenic | ||||||
CA090920 | Uncertain Significance | Uncertain Significance | Likely Pathogenic | ||||||
CA090948 | Likely Pathogenic | Pathogenic | Likely Pathogenic | ||||||
CA090900 | Benign | Benign | Benign | ||||||
CA019451 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
CA090909 | Likely Benign | Uncertain Significance | Uncertain Significance | ||||||
CA090886 | Benign | Uncertain Significance | Uncertain Significance | ||||||
CA090887 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090937 | Pathogenic | Pathogenic | Pathogenic | ||||||
CA090952 | Pathogenic | Pathogenic | Pathogenic | ||||||
CA090931 | Likely Pathogenic | Uncertain Significance | Uncertain Significance | ||||||
CA090946 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090938 | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | ||||||
CA090918 | Uncertain Significance | Benign | Benign | ||||||
CA090885 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090926 | Benign | Uncertain Significance | Uncertain Significance | ||||||
CA090910 | Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
CA090901 | Pathogenic | Pathogenic | Pathogenic | ||||||
CA090924 | Likely Benign | Uncertain Significance | Uncertain Significance | Uncertain Significance | Uncertain Significance | Likely Benign | Uncertain Significance | Uncertain Significance | Uncertain Significance |
CA015432 | Benign | Uncertain Significance | Likely Benign | ||||||
CA090908 | Benign | Uncertain Significance | Likely Benign | ||||||
CA090927 | Likely Pathogenic | Likely Pathogenic | Pathogenic | ||||||
"":http://genboree.org/java-bin/clingenpV1.9.jsp?conf=csersite&ca= | Uncertain Significance | Likely Pathogenic | Pathogenic | Uncertain Significance | |||||
CA090897 | Pathogenic | Pathogenic | Pathogenic | ||||||
CA090889 | Likely Pathogenic | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic |
CA090929 | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
CA090933 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA017597 | Benign | Pathogenic | Benign | ||||||
CA090912 | Likely Pathogenic | Pathogenic | Uncertain Significance | ||||||
CA090894 | - | ||||||||
CA090893 | Uncertain Significance | ||||||||
CA010235 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
CA090907 | Benign | Benign | Benign | ||||||
CA090950 | Uncertain Significance | Uncertain Significance | Likely Benign | ||||||
CA012232 | Uncertain Significance | Uncertain Significance | Benign | Uncertain Significance | Likely Benign | ||||
CA090915 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA022880 | Pathogenic | Pathogenic | Likely Pathogenic | ||||||
CA021883 | Pathogenic | Uncertain Significance | Likely Pathogenic | ||||||
CA090919 | Likely Pathogenic | Likely Pathogenic | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | Uncertain Significance |
CA090906 | Uncertain Significance | Likely Pathogenic | Likely Pathogenic | ||||||
CA090953 | Likely Pathogenic | Pathogenic | Likely Pathogenic | ||||||
CA090904 | Pathogenic | Likely Pathogenic | Likely Pathogenic | ||||||
CA090896 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090930 | Likely Pathogenic | Uncertain Significance | Uncertain Significance | ||||||
CA090922 | Likely Pathogenic | Pathogenic | Uncertain Significance | ||||||
CA090902 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA004451 | Pathogenic | Likely Pathogenic | Pathogenic | ||||||
CA090916 | Uncertain Significance | Uncertain Significance | Benign | ||||||
CA090944 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA090890 | Pathogenic | Pathogenic | Pathogenic | ||||||
CA090911 | Uncertain Significance | Uncertain Significance | Likely Pathogenic | ||||||
CA006474 | Likely Benign | Uncertain Significance | Benign | Likely Benign | Uncertain Significance | Benign | Benign | Benign | Uncertain Significance |
CA026468 | Uncertain Significance | Likely Benign | Benign | ||||||
CA017654 | Likely Pathogenic | Uncertain Significance | Pathogenic | ||||||
CA090923 | Pathogenic | Likely Pathogenic | Uncertain Significance | ||||||
CA004058 | Uncertain Significance | Uncertain Significance | Uncertain Significance | ||||||
CA024311 | Pathogenic | Likely Pathogenic | Pathogenic | ||||||
CA090951 | Pathogenic | Uncertain Significance | Pathogenic | ||||||
CA090949 | Uncertain Significance | Likely Benign | Uncertain Significance | ||||||
CA090936 | Uncertain Significance | Uncertain Significance | Likely Pathogenic | ||||||
CA090935 | Pathogenic | Likely Pathogenic | Pathogenic | ||||||
CA090895 | Uncertain Significance | Uncertain Significance | Likely Benign | ||||||
CA090932 | Likely Pathogenic | Likely Pathogenic | Pathogenic | Pathogenic | Pathogenic | Likely Pathogenic | Likely Pathogenic | Likely Pathogenic | Pathogenic |
CA090891 | Benign | Benign | Benign |
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