ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.135C>T (p.Asp45=)

gnomAD frequency: 0.00007  dbSNP: rs533110688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614159 SCV000721114 likely benign not provided 2018-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063933 SCV002442455 likely benign Atrial fibrillation, familial, 14 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384339 SCV002699602 likely benign Cardiovascular phenotype 2018-01-15 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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