ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) (rs759525537)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649613 SCV000771442 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172874 SCV001335947 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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