ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1689G>A (p.Arg563=)

gnomAD frequency: 0.00006  dbSNP: rs141723935
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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 RCV002414608 SCV002715909 likely benign Cardiovascular phenotype 2019-09-27 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 RCV003097121 SCV003003478 likely benign Brugada syndrome 2024-07-23 criteria provided, single submitter clinical testing

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