ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7323T>C (p.Thr2441=)

gnomAD frequency: 0.00010  dbSNP: rs201919981
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723546 SCV000112659 uncertain significance not provided 2016-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000723546 SCV000718679 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088599 SCV000751584 likely benign Duchenne muscular dystrophy 2024-01-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000080757 SCV001433474 likely benign not specified 2019-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381400 SCV002668469 benign Cardiovascular phenotype 2021-10-13 criteria provided, single submitter clinical testing This alteration is classified as 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. RCV001826759 SCV002087774 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-08-09 no assertion criteria provided clinical testing

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