ClinVar Miner

Submissions for variant NM_007289.4(MME):c.307C>T (p.Arg103Cys)

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Total submissions: 2
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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 RCV001262743 SCV001440722 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2T 2020-09-04 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001701310 SCV001923860 uncertain significance not provided no assertion criteria provided clinical testing

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