ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.501G>T (p.Leu167=)

gnomAD frequency: 0.00006  dbSNP: rs150239235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272433 SCV000343977 uncertain significance not provided 2016-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088013 SCV001009732 benign Duchenne muscular dystrophy 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338857 SCV002644589 likely benign Cardiovascular phenotype 2022-05-02 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.
Natera, Inc. RCV001835766 SCV002092899 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-16 no assertion criteria provided clinical testing

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