ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) (rs112261870)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649588 SCV000771417 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172862 SCV001335935 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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