ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1161C>T (p.Pro387=)

gnomAD frequency: 0.00001  dbSNP: rs772078282
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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 RCV001843070 SCV001345602 likely benign Cardiac arrhythmia 2020-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001468367 SCV001672413 likely benign Long QT syndrome 2024-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356840 SCV002622645 likely benign Cardiovascular phenotype 2021-10-01 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 RCV001468367 SCV004836388 likely benign Long QT syndrome 2023-06-26 criteria provided, single submitter clinical testing

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