ClinVar Miner

Submissions for variant NM_001040151.2(SCN3B):c.198C>A (p.Pro66=)

dbSNP: rs115752338
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001413945 SCV001616067 likely benign Brugada syndrome 7 2024-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420931 SCV002719106 likely benign Cardiovascular phenotype 2020-09-30 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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