ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.8810A>G (p.Gln2937Arg) (rs1800280)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576762 SCV000677280 benign Becker muscular dystrophy; Duchenne muscular dystrophy 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000124712 SCV000168148 benign not specified 2013-11-22 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.
Integrated Genetics/Laboratory Corporation of America RCV000124712 SCV000919267 benign not specified 2018-07-19 criteria provided, single submitter clinical testing
Invitae RCV000206630 SCV000262232 benign Duchenne muscular dystrophy 2018-01-05 criteria provided, single submitter clinical testing

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