ClinVar Miner

Submissions for variant NM_002677.5(PMP2):c.151A>C (p.Thr51Pro)

dbSNP: rs1563518390
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000736032 SCV000864251 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1G 2019-01-16 no assertion criteria provided literature only

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