ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3156+5G>A (rs200905961)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234356 SCV000287113 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-08-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000500169 SCV000594440 uncertain significance not specified 2016-02-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728924 SCV000856549 uncertain significance not provided 2017-09-13 criteria provided, single submitter clinical testing

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