ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.645+1G>T (rs281865131)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000033924 SCV000057841 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790079 SCV000929469 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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