ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) (rs184264124)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869704 SCV001011152 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 RCV001173868 SCV001336984 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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