ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) (rs137852818)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Cytogenetique,Hospices Civils de Lyon RCV000760252 SCV000890087 likely pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia; FG syndrome 4 2017-03-08 criteria provided, single submitter clinical testing
OMIM RCV000012290 SCV000032524 pathogenic FG syndrome 4 2009-05-01 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.