ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9987A>G (p.Leu3329=)

gnomAD frequency: 0.00004  dbSNP: rs145595228
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377578 SCV000342774 uncertain significance not provided 2016-06-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001469451 SCV001673531 likely benign Duchenne muscular dystrophy 2023-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992162 SCV005566494 likely benign Cardiovascular phenotype 2024-08-31 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. RCV001828253 SCV002077635 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-06-21 no assertion criteria provided clinical testing

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