ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9228C>T (p.His3076=)

gnomAD frequency: 0.00002  dbSNP: rs761925260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001446179 SCV001649222 likely benign Duchenne muscular dystrophy 2024-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160800 SCV003853665 likely benign Cardiovascular phenotype 2023-01-20 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. RCV001832574 SCV002080179 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-02-25 no assertion criteria provided clinical testing

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