ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.357C>T (p.Tyr119=)

gnomAD frequency: 0.00001  dbSNP: rs1266621411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000901614 SCV001045992 likely benign Brugada syndrome 5 2022-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002460117 SCV002618073 likely benign Cardiovascular phenotype 2019-12-19 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.

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