ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.96T>C (p.Tyr32=)

gnomAD frequency: 0.00008  dbSNP: rs143453040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873352 SCV001015332 likely benign Brugada syndrome 5 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372475 SCV002690593 likely benign Cardiovascular phenotype 2018-10-09 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.
Breakthrough Genomics, Breakthrough Genomics RCV004704243 SCV005206963 likely benign not provided criteria provided, single submitter not provided

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