ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) (rs781015830)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171433 SCV000221631 likely pathogenic not provided no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000171433 SCV000226623 uncertain significance not provided 2014-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000259130 SCV000723864 likely benign not specified 2017-10-25 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.

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