ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) (rs281865132)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000033925 SCV000057842 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790078 SCV000929468 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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