ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5808C>T (p.Ser1936=)

gnomAD frequency: 0.00001  dbSNP: rs754276826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440049 SCV000531101 likely benign not specified 2016-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001841328 SCV001354147 likely benign Cardiac arrhythmia 2019-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005208830 SCV001676917 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356599 SCV002648075 likely benign Cardiovascular phenotype 2020-05-03 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.

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