ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.4963+1G>A

gnomAD frequency: 0.00001  dbSNP: rs760836130
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
DeNA Laboratory, DeNA Laboratory RCV001353052 SCV001547259 likely pathogenic Microcephaly 3, primary, autosomal recessive 2017-10-25 criteria provided, single submitter research
MGZ Medical Genetics Center RCV001353052 SCV002579721 likely pathogenic Microcephaly 3, primary, autosomal recessive 2021-11-26 criteria provided, single submitter clinical testing

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.