ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)

gnomAD frequency: 0.00035  dbSNP: rs146817002
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085331 SCV000288068 likely benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000657863 SCV000345274 uncertain significance not provided 2017-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000657863 SCV000779623 benign not provided 2020-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002378993 SCV002674400 likely benign Cardiovascular phenotype 2020-03-13 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.
Revvity Omics, Revvity RCV000657863 SCV003829546 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing

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