ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2973G>A (p.Glu991=)

gnomAD frequency: 0.00001  dbSNP: rs780454571
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621175 SCV000736398 likely benign Cardiovascular phenotype 2017-02-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001417561 SCV001619765 likely benign Duchenne muscular dystrophy 2024-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834965 SCV002089008 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-02-29 no assertion criteria provided clinical testing

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