ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2291A>G (p.Asn764Ser) (rs199588981)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726166 SCV000342554 uncertain significance not provided 2016-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000397777 SCV000524859 likely benign not specified 2016-03-10 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000397777 SCV000740564 likely benign not specified 2017-01-23 criteria provided, single submitter clinical testing
Invitae RCV001081740 SCV001003547 benign Duchenne muscular dystrophy 2020-11-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726166 SCV001747037 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing

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