ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2912A>T (p.Asp971Val)

gnomAD frequency: 0.00003  dbSNP: rs762154042
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694095 SCV000822522 likely benign Duchenne muscular dystrophy 2024-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766089 SCV000897564 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144525 SCV003829513 uncertain significance not provided 2023-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609491 SCV005108236 likely benign Cardiovascular phenotype 2024-03-21 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. RCV001825355 SCV002089656 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-23 no assertion criteria provided clinical testing

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