ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.606C>T (p.Ile202=)

gnomAD frequency: 0.00010  dbSNP: rs138335295
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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) RCV000080681 SCV000112583 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082735 SCV000625931 benign Duchenne muscular dystrophy 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354278 SCV002657705 likely benign Cardiovascular phenotype 2019-11-01 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323390 SCV004029846 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831863 SCV002090493 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-27 no assertion criteria provided clinical testing

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