ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8958G>A (p.Ala2986=)

gnomAD frequency: 0.00003  dbSNP: rs755815057
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591694 SCV000702145 uncertain significance not provided 2016-10-10 criteria provided, single submitter clinical testing
Invitae RCV001084795 SCV001002388 benign Duchenne muscular dystrophy 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448829 SCV002682089 likely benign Cardiovascular phenotype 2019-05-24 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.
PreventionGenetics, part of Exact Sciences RCV004543320 SCV004760102 likely benign DMD-related disorder 2019-03-13 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. RCV001829639 SCV002080214 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-18 no assertion criteria provided clinical testing

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