ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5496T>C (p.Thr1832=)

gnomAD frequency: 0.00127  dbSNP: rs112374164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540889 SCV000637035 benign Brugada syndrome 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001696944 SCV000725274 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350243 SCV002652720 likely benign Cardiovascular phenotype 2019-04-16 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586773 SCV005076025 benign not specified 2024-04-28 criteria provided, single submitter clinical testing

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