ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2886C>T (p.Ala962=)

gnomAD frequency: 0.00002  dbSNP: rs544057915
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001711794 SCV000291788 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001843000 SCV001341225 likely benign Cardiac arrhythmia 2018-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001711794 SCV001939928 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001843000 SCV004817931 likely benign Cardiac arrhythmia 2023-12-13 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000228847 SCV001571577 likely benign Brugada syndrome 2020-11-19 no assertion criteria provided clinical testing

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