ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2814C>T (p.Phe938=)

gnomAD frequency: 0.00012  dbSNP: rs200870389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525599 SCV000637011 benign Brugada syndrome 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001540270 SCV001758136 likely benign not provided 2019-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438344 SCV002746618 benign Cardiovascular phenotype 2020-08-04 criteria provided, single submitter clinical testing This alteration is classified as 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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