ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) (rs121913587)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425572 SCV000521267 pathogenic not provided 2019-12-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29687021, 10737979, 9055797, 8664899, 21107784, 29627640)
OMIM RCV000015235 SCV000035494 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 1996-01-01 no assertion criteria provided literature only

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