ClinGen Evidence Repository:
Classification Uncertain Significance
Condition long QT syndrome 1
VCEP Potassium Channel Arrhythmia VCEP
gnomAD v2:
11:2594193 G / A
gnomAD v3:
11:2572963 G / A
gnomAD v4:
chr11-2572963-G-A
Joint Max Group AF 0.00020679 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.0002416 (AMR)
MyVariant.info:
GRCh38 chr11:g.2572963G>A
GRCh37 chr11:g.2594193G>A
Revel Score:
ENST00000155840 (MANE Select) 0.907
ENST00000335475 0.907