ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.249T>C (p.Asp83=)

gnomAD frequency: 0.00001  dbSNP: rs1234271758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600210 SCV000730760 likely benign not specified 2017-02-27 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.
Ambry Genetics RCV002431817 SCV002740950 likely benign Cardiovascular phenotype 2018-02-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV003509585 SCV004284880 likely benign Brugada syndrome 5 2023-10-03 criteria provided, single submitter clinical testing

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