ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.1315-7A>G (rs1555986221)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Cytogenetics and Genome Research,KU Leuven RCV000618602 SCV000611616 pathogenic Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2017-11-01 criteria provided, single submitter research de novo variant in individual with severe postnatal microcephaly, profound intellectual disability, small cerebellum, etc

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.