ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.477C>T (p.Ala159=)

gnomAD frequency: 0.00006  dbSNP: rs777479532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609622 SCV000720415 likely benign not specified 2017-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063879 SCV002471885 likely benign Atrial fibrillation, familial, 14 2023-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341573 SCV002638697 likely benign Cardiovascular phenotype 2021-09-29 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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