ClinVar Miner

Submissions for variant NM_004715.4(CTDP1):c.863+389C>T (rs113994102)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000005622 SCV000041120 pathologic Congenital Cataracts, Facial Dysmorphism, and Neuropathy 2012-08-16 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789083 SCV000928432 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only
OMIM RCV000005622 SCV000025804 pathogenic Congenital Cataracts, Facial Dysmorphism, and Neuropathy 2004-10-01 no assertion criteria provided literature only

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