ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.126T>C (p.Asn42=)

gnomAD frequency: 0.00015  dbSNP: rs376336851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495226 SCV001699898 likely benign Atrial fibrillation, familial, 14 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449307 SCV002682066 likely benign Cardiovascular phenotype 2020-11-19 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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