ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11139A>G (p.Leu3713=) (rs143642514)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000500953 SCV000594426 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV000867893 SCV001009164 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing

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