ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093011 SCV001249781 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789450 SCV000928806 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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