ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.235+6A>G (rs113192269)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425199 SCV000511211 likely benign not provided 2017-01-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000145916 SCV000730891 benign not specified 2018-01-17 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.
Genetic Services Laboratory, University of Chicago RCV000145916 SCV000193053 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385125 SCV000410333 likely benign Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290860 SCV000410334 likely benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463480 SCV000563198 benign Charcot-Marie-Tooth disease, dominant intermediate B 2017-12-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000145916 SCV000305627 benign not specified criteria provided, single submitter clinical testing

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