ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)

gnomAD frequency: 0.00143  dbSNP: rs147694734
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183378 SCV000235820 benign not specified 2016-12-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000183378 SCV000331601 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618151 SCV000736505 benign Cardiovascular phenotype 2018-10-23 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.
Invitae RCV001084240 SCV000751592 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000630627 SCV001143753 benign not provided 2018-12-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000630627 SCV002047848 likely benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000183378 SCV002766250 likely benign not specified 2022-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833096 SCV002087761 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-12 no assertion criteria provided clinical testing

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