ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.546C>T (p.Tyr182=)

gnomAD frequency: 0.00002  dbSNP: rs775659068
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419705 SCV000530014 likely benign not specified 2016-07-28 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.
Invitae RCV000540563 SCV000647846 likely benign Brugada syndrome 5 2023-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348213 SCV002651183 likely benign Cardiovascular phenotype 2018-02-07 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.
Clinical Genetics, Academic Medical Center RCV000419705 SCV001922022 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702454 SCV001930872 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000419705 SCV001952603 benign not specified no assertion criteria provided clinical testing

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