ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.152A>G (p.His51Arg) (rs368908933)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087677 SCV000253233 benign Charcot-Marie-Tooth disease, type I 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762229 SCV000892510 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172746 SCV001335812 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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