ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro)

gnomAD frequency: 0.21722  dbSNP: rs12632942
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253983 SCV000311518 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253983 SCV000519616 benign not specified 2016-09-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000253983 SCV000740402 benign not specified 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV001510995 SCV001718168 benign Brugada syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807173 SCV002054500 benign Episodic pain syndrome, familial, 2 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321930 SCV002606484 benign Cardiovascular phenotype 2018-12-21 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000253983 SCV003928298 likely benign not specified 2023-04-09 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000253983 SCV001920249 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000253983 SCV001959077 benign not specified no assertion criteria provided clinical testing

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