ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6200C>T (p.Thr2067Met)

gnomAD frequency: 0.00001  dbSNP: rs1405599353
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618265 SCV000736107 likely benign Cardiovascular phenotype 2024-09-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001052071 SCV001216261 likely benign Duchenne muscular dystrophy 2024-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829735 SCV002091026 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-20 no assertion criteria provided clinical testing

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