ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1320C>A (p.Val440=)

dbSNP: rs781151116
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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 RCV001842641 SCV001340062 likely benign Cardiac arrhythmia 2019-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379676 SCV002690416 likely benign Cardiovascular phenotype 2019-05-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002558807 SCV003019498 likely benign Long QT syndrome 2023-01-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002558807 SCV004836413 likely benign Long QT syndrome 2023-10-02 criteria provided, single submitter clinical testing

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