ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) (rs104894625)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008958 SCV000029170 pathogenic Hereditary liability to pressure palsies 2004-09-01 no assertion criteria provided literature only
OMIM RCV000008959 SCV000053464 pathogenic Charcot-Marie-Tooth disease, type IA 2004-09-01 no assertion criteria provided literature only
GeneReviews RCV000008959 SCV000055667 pathologic Charcot-Marie-Tooth disease, type IA 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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