ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4115C>T (p.Ala1372Val)

dbSNP: rs759108067
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000872969 SCV000746406 benign Duchenne muscular dystrophy 2020-05-03 criteria provided, single submitter clinical testing
Invitae RCV000872969 SCV001014881 benign Duchenne muscular dystrophy 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302964 SCV004001806 benign Cardiovascular phenotype 2023-04-06 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.
PreventionGenetics, part of Exact Sciences RCV004544816 SCV004757416 likely benign DMD-related disorder 2020-03-19 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).

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