ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005622 SCV000025804 pathogenic Congenital Cataracts, Facial Dysmorphism, and Neuropathy 2004-10-01 no assertion criteria provided literature only
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.