ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1908C>T (p.Thr636=)

gnomAD frequency: 0.00018  dbSNP: rs147235762
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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 RCV000553421 SCV000637002 likely benign Brugada syndrome 2024-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001696943 SCV000723624 likely benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413498 SCV002720520 likely benign Cardiovascular phenotype 2019-07-11 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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