ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.4568G>A (p.Cys1523Tyr)

gnomAD frequency: 0.00134  dbSNP: rs142217269
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206267 SCV000261624 likely benign Brugada syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001722133 SCV000514477 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25053638, 26733327, 25691538, 25691686, 23115331, 25250524, 28074886)
Ambry Genetics RCV002336569 SCV002636044 likely benign Cardiovascular phenotype 2019-02-05 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.
CeGaT Center for Human Genetics Tuebingen RCV001722133 SCV004154205 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SCN10A: BS1
PreventionGenetics, part of Exact Sciences RCV004530238 SCV004742246 likely benign SCN10A-related disorder 2020-05-05 criteria provided, single submitter 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).
Clinical Genetics, Academic Medical Center RCV001795337 SCV001923206 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001722133 SCV001963043 likely benign not provided no assertion criteria provided clinical testing

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