ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10836C>T (p.Ser3612=)

gnomAD frequency: 0.00033  dbSNP: rs148590546
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619788 SCV000736546 likely benign Cardiovascular phenotype 2016-02-01 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.
Invitae RCV000630591 SCV000751556 benign Duchenne muscular dystrophy 2024-01-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732266 SCV000860191 likely benign not specified 2018-03-15 criteria provided, single submitter clinical testing
GeneDx RCV001683611 SCV001903510 benign not provided 2020-04-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533273 SCV004713478 likely benign DMD-related disorder 2023-06-13 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000732266 SCV005039458 benign not specified 2024-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834966 SCV002077578 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-07-30 no assertion criteria provided clinical testing

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