ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) (rs797044941)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratry for Genetics of Birth Defects,Beijing Children's Hospital RCV000789474 SCV001739482 likely pathogenic Dejerine-Sottas disease 2020-02-28 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789474 SCV000928830 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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