ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1014A>G (p.Glu338=)

gnomAD frequency: 0.00003  dbSNP: rs758035070
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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) RCV000275363 SCV000342500 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001484138 SCV001688548 likely benign Duchenne muscular dystrophy 2024-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021251 SCV005021396 likely benign Cardiovascular phenotype 2024-03-01 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.
Natera, Inc. RCV001828250 SCV002090421 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-07-19 no assertion criteria provided clinical testing

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