ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) (rs148790687)

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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 RCV000145917 SCV000228919 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000145917 SCV000193054 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396636 SCV000410339 likely benign Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297819 SCV000410340 likely benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461209 SCV000563209 likely benign Charcot-Marie-Tooth disease, dominant intermediate B 2018-01-03 criteria provided, single submitter clinical testing

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