ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.357G>A (p.Pro119=)

gnomAD frequency: 0.00008  dbSNP: rs149169244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698001 SCV000723609 likely benign not provided 2021-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000867780 SCV001009042 likely benign Atrial fibrillation, familial, 14 2022-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456366 SCV002613589 likely benign Cardiovascular phenotype 2020-03-11 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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