ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.314T>C (p.Leu105Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004596665 SCV005088722 uncertain significance Charcot-Marie-Tooth disease, type IA 2024-07-30 criteria provided, single submitter clinical testing

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