ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)

gnomAD frequency: 0.00022  dbSNP: rs758633794
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518551 SCV000613137 likely benign not specified 2017-08-07 criteria provided, single submitter clinical testing
Invitae RCV000990609 SCV000751571 benign Duchenne muscular dystrophy 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733400 SCV000861466 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
Mendelics RCV000990609 SCV001141624 likely benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420297 SCV002681730 benign Cardiovascular phenotype 2019-01-14 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000733400 SCV003834738 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535677 SCV004727156 likely benign DMD-related disorder 2022-08-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001834662 SCV002087706 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-10-22 no assertion criteria provided clinical testing

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