ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.558del (p.Arg186fs) (rs1553259568)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000578395 SCV000680293 pathogenic Dejerine-Sottas disease 2017-11-08 no assertion criteria provided clinical testing

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