ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11365A>G (p.Ile3789Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034529 SCV001197887 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-10-30 criteria provided, single submitter clinical testing

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