ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.228G>A (p.Glu76=)

gnomAD frequency: 0.00001  dbSNP: rs992954476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621998 SCV000738067 likely benign Cardiovascular phenotype 2017-06-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091777 SCV005834939 likely benign Brugada syndrome 5 2025-01-27 criteria provided, single submitter clinical testing

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