ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)

dbSNP: rs137852648
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 RCV000009789 SCV000030010 pathogenic Charcot-Marie-Tooth disease type 2D 2009-05-01 no assertion criteria provided literature only
GeneReviews RCV000009789 SCV001760933 not provided Charcot-Marie-Tooth disease type 2D no assertion provided literature only GARS1-HMSN (CMT2D & dSMA-V) [Abe & Hayasaka 2009, Griffin et al 2014]
Inherited Neuropathy Consortium Ii, University Of Miami RCV000009789 SCV004174555 uncertain significance Charcot-Marie-Tooth disease type 2D 2016-01-06 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.