ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1596G>A (p.Ala532=)

gnomAD frequency: 0.00006  dbSNP: rs558452873
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000536336 SCV000627379 likely benign Long QT syndrome 2023-09-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841420 SCV000914033 likely benign Cardiac arrhythmia 2018-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159741 SCV003867634 likely benign Cardiovascular phenotype 2022-11-02 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.
All of Us Research Program, National Institutes of Health RCV000536336 SCV004836461 likely benign Long QT syndrome 2023-12-18 criteria provided, single submitter clinical testing

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