ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.348C>T (p.Asn116=)

gnomAD frequency: 0.00001  dbSNP: rs72544144
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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 RCV001458307 SCV001662126 likely benign Atrial fibrillation, familial, 14 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454167 SCV002615769 likely benign Cardiovascular phenotype 2019-12-03 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 RCV004705943 SCV005212362 likely benign not provided criteria provided, single submitter not provided

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