ClinVar Miner

Submissions for variant NM_172201.2(KCNE2):c.228A>G (p.Arg76=)

gnomAD frequency: 0.00004  dbSNP: rs202169020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001432402 SCV001635172 likely benign Long QT syndrome 6 2023-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456713 SCV002736871 likely benign Cardiovascular phenotype 2019-09-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002476755 SCV002794855 likely benign Atrial fibrillation, familial, 4; Long QT syndrome 6 2021-08-11 criteria provided, single submitter clinical testing

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