ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) (rs144250390)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genetic Medicine Research,Children's National Medical Center RCV000120647 SCV000265817 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120647 SCV000227176 likely benign not specified 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000120647 SCV000722387 benign not specified 2017-03-02 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 RCV000145912 SCV000193049 uncertain significance Peripheral neuropathy 2013-02-08 criteria provided, single submitter clinical testing
ITMI RCV000120647 SCV000084808 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000199355 SCV000252733 benign Charcot-Marie-Tooth disease, dominant intermediate B 2017-12-14 criteria provided, single submitter clinical testing

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