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Bradley Hartley posted an update 6 hours, 37 minutes ago
7%). Based on existing data, 2 KCNE1 variants (p.Asp76Asn-KCNE1, p.Arg98Trp-KCNE1) were classified as P/LP. Whereas the p.Ser28Leu-KCNE1 VUS conferred a loss-of-function EP phenotype (72% reduction in IKs current) and was upgraded to an LP variant, the 3 remaining KCNE1 VUS (p.Arg67Cys-KCNE1, p.Arg67His-KCNE1, p.Ser74Leu-KCNE1) were…[Read more]
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