ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3753C>A (p.Thr1251=)

gnomAD frequency: 0.00021  dbSNP: rs144350950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863963 SCV001004699 likely benign Brugada syndrome 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363219 SCV002625274 likely benign Cardiovascular phenotype 2020-05-29 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.
Clinical Genetics, Academic Medical Center RCV001701456 SCV001922502 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724178 SCV001958724 likely benign not provided no assertion criteria provided clinical testing

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