ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2252G>A (p.Arg751Gln)

gnomAD frequency: 0.00004  dbSNP: rs747802164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433823 SCV000532666 likely benign not specified 2016-12-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001248135 SCV001421602 likely benign Duchenne muscular dystrophy 2024-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446738 SCV002735234 likely benign Cardiovascular phenotype 2020-06-04 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.
Revvity Omics, Revvity RCV003144264 SCV003834740 uncertain significance not provided 2021-07-22 criteria provided, single submitter clinical testing

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