ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.9804A>G (p.Gln3268=) (rs12690372)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080860 SCV000112762 benign not specified 2015-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251354 SCV000319515 likely benign Cardiovascular phenotype 2015-03-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000534939 SCV000625993 benign Duchenne muscular dystrophy 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001668199 SCV001889499 benign not provided 2020-11-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001027920 SCV001190647 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-05-20 no assertion criteria provided clinical testing

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