ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)

dbSNP: rs879253858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235064 SCV000292344 pathogenic Charcot-Marie-Tooth disease type 1B 2015-08-18 criteria provided, single submitter research This variant has been previously reported as disease-causing and was found in a male with demyelinating neuropathy.
Inherited Neuropathy Consortium RCV000789436 SCV000928791 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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