ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.561C>T (p.Ala187=)

gnomAD frequency: 0.00005  dbSNP: rs587781152
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127913 SCV000171499 benign not specified 2014-03-21 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.
Eurofins Ntd Llc (ga) RCV000730227 SCV000857948 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV001517240 SCV001725710 benign Brugada syndrome 5 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345438 SCV002651507 likely benign Cardiovascular phenotype 2018-09-29 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.

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