ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2973G>A (p.Pro991=)

gnomAD frequency: 0.00006  dbSNP: rs201397469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002434384 SCV002746194 likely benign Cardiovascular phenotype 2022-05-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549991 SCV003246080 likely benign Brugada syndrome 2023-12-12 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000998043 SCV001920192 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000998043 SCV001952103 likely benign not provided no assertion criteria provided clinical testing

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