ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8886C>T (p.Pro2962=)

gnomAD frequency: 0.00005  dbSNP: rs371648038
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443270 SCV000532581 likely benign not specified 2017-06-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000726697 SCV000702185 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Invitae RCV001509680 SCV001716517 benign Duchenne muscular dystrophy 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374699 SCV002684544 likely benign Cardiovascular phenotype 2019-07-09 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 RCV004539891 SCV004792027 likely benign DMD-related disorder 2021-07-21 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. RCV001835800 SCV002080225 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-15 no assertion criteria provided clinical testing

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