ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.927G>A (p.Leu309=)

dbSNP: rs771583859
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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 RCV002214847 SCV002368723 likely benign Brugada syndrome 2021-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382831 SCV004097822 likely benign Cardiovascular phenotype 2023-07-03 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.
PreventionGenetics, part of Exact Sciences RCV004734426 SCV005358081 likely benign SCN10A-related disorder 2019-10-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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