ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.678C>T (p.Ala226=)

dbSNP: rs771489129
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843144 SCV001348524 likely benign Cardiac arrhythmia 2020-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001434971 SCV001637789 likely benign Long QT syndrome 2024-03-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001434971 SCV004838775 likely benign Long QT syndrome 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033082 SCV005033110 likely benign Cardiovascular phenotype 2024-03-04 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.

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