ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9919G>T (p.Val3307Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico RCV001250995 SCV001424525 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2O 2020-01-26 criteria provided, single submitter clinical testing

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