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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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