ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5942C>T (p.Thr1981Met)

gnomAD frequency: 0.00002  dbSNP: rs140575687
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808527 SCV000948637 benign Duchenne muscular dystrophy 2024-10-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145160 SCV003829550 uncertain significance not provided 2020-02-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994029 SCV005566447 likely benign Cardiovascular phenotype 2024-09-18 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. RCV001835972 SCV002093438 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-02-06 no assertion criteria provided clinical testing

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