ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1846C>T (p.Leu616=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412938 SCV002717086 likely benign Cardiovascular phenotype 2020-12-23 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.
Color Diagnostics, LLC DBA Color Health RCV003591956 SCV004358443 likely benign Cardiac arrhythmia 2021-09-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007372 SCV004836488 likely benign Long QT syndrome 2023-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004007372 SCV005719716 likely benign Long QT syndrome 2025-01-30 criteria provided, single submitter clinical testing

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