ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4075-5G>A (rs750127672)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000329342 SCV000334701 uncertain significance not provided 2015-09-23 criteria provided, single submitter clinical testing
Invitae RCV000649614 SCV000771443 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-08-08 criteria provided, single submitter clinical testing

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