ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.234+5G>A

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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, University of Leipzig Medical Center RCV005247917 SCV005900124 uncertain significance Charcot-Marie-Tooth disease type 1B 2025-03-04 criteria provided, single submitter clinical testing Criteria applied: PM2,PP3

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