ClinVar Miner

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

dbSNP: rs115752338
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171067 SCV000223631 benign not specified 2014-06-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000233030 SCV000290461 benign Brugada syndrome 7 2025-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249174 SCV000318435 benign Cardiovascular phenotype 2017-02-03 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812148 SCV001471655 benign not provided 2022-03-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000171067 SCV005205147 benign not specified 2024-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812148 SCV005237295 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000171067 SCV001924874 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000171067 SCV001954797 benign not specified no assertion criteria provided clinical testing

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