ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.241C>T (p.His81Tyr) (rs281865123)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000033913 SCV000057829 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789424 SCV000928779 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Genesis Genome Database RCV000789424 SCV000999692 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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