ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2688C>T (p.Asp896=)

gnomAD frequency: 0.00001  dbSNP: rs990606927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445788 SCV001648822 likely benign Brugada syndrome 2022-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002432240 SCV002742227 likely benign Cardiovascular phenotype 2021-11-22 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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