ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3663A>G (p.Val1221=)

gnomAD frequency: 0.00002  dbSNP: rs750549006
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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 RCV001089181 SCV000751570 likely benign Duchenne muscular dystrophy 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732779 SCV000860765 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000732779 SCV001805762 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992411 SCV005566456 likely benign Cardiovascular phenotype 2024-10-08 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. RCV001829767 SCV002085420 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-06-29 no assertion criteria provided clinical testing

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