ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.354G>T (p.Thr118=)

gnomAD frequency: 0.00001  dbSNP: rs776275784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172749 SCV001335815 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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