ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.103G>C (p.Asp35His)

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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,Cologne University RCV001200043 SCV001190593 uncertain significance Charcot-Marie-Tooth disease dominant intermediate d 2020-03-27 criteria provided, single submitter clinical testing ACMG-Criteria PM2, PM5, PP3.

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