ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1869C>G (p.Leu623=)

dbSNP: rs1800267
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721360 SCV000530932 benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Invitae RCV000533891 SCV000625853 benign Duchenne muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000440631 SCV000703103 likely benign not specified 2016-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411378 SCV002724155 likely benign Cardiovascular phenotype 2019-01-28 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 RCV004539875 SCV004778061 likely benign DMD-related disorder 2019-09-03 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. RCV001833553 SCV002092223 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-06-24 no assertion criteria provided clinical testing

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