ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6072T>C (p.Cys2024=)

gnomAD frequency: 0.00002  dbSNP: rs373804251
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256880 SCV001433376 benign not specified 2019-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001407764 SCV001609743 likely benign Duchenne muscular dystrophy 2024-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002357061 SCV002659871 likely benign Cardiovascular phenotype 2022-04-09 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001256880 SCV004038114 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529076 SCV001741921 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529076 SCV001930609 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001830059 SCV002091044 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-11-06 no assertion criteria provided clinical testing

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