ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9093C>T (p.Val3031=)

gnomAD frequency: 0.00007  dbSNP: rs72466563
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725803 SCV000339513 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000725803 SCV000720141 likely benign not provided 2019-04-16 criteria provided, single submitter clinical testing
Invitae RCV001081154 SCV001004073 likely benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374469 SCV002688560 likely benign Cardiovascular phenotype 2019-07-14 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 RCV004535362 SCV004720300 likely benign DMD-related disorder 2019-06-12 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725803 SCV001928272 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725803 SCV001974253 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001833358 SCV002080195 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-02 no assertion criteria provided clinical testing

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