ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7578G>A (p.Gln2526=)

gnomAD frequency: 0.00014  dbSNP: rs142236825
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724972 SCV000332827 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000724972 SCV000532289 likely benign not provided 2020-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088245 SCV000751604 likely benign Duchenne muscular dystrophy 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392795 SCV002672960 likely benign Cardiovascular phenotype 2019-05-23 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. RCV001833314 SCV002087749 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-05-29 no assertion criteria provided clinical testing

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