ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1992C>T (p.Ser664=)

gnomAD frequency: 0.00002  dbSNP: rs368167264
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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 RCV001457736 SCV001661541 likely benign Brugada syndrome 2018-10-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842556 SCV002052515 likely benign Cardiac arrhythmia 2021-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416073 SCV002718584 likely benign Cardiovascular phenotype 2020-12-13 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.
Fulgent Genetics, Fulgent Genetics RCV002501343 SCV002807153 likely benign Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2021-09-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001842556 SCV004842807 likely benign Cardiac arrhythmia 2024-02-05 criteria provided, single submitter clinical testing

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