ClinVar Miner

Submissions for variant NC_000017.11:g.15133096_15164093dup

Minimum review status: Collection method:
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ClinVar version:
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 RCV001254878 SCV001424528 pathogenic Charcot-Marie-Tooth disease, type IA 2020-01-26 criteria provided, single submitter clinical testing

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