ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) (rs104894626)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000023072 SCV000055668 pathologic Charcot-Marie-Tooth disease and deafness 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000023072 SCV000044363 pathogenic Charcot-Marie-Tooth disease and deafness 2002-02-01 no assertion criteria provided literature only

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