ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)

dbSNP: rs137852997
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000005251 SCV000192212 pathogenic Microcephaly 5, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000005251 SCV000025429 pathogenic Microcephaly 5, primary, autosomal recessive 2005-09-01 no assertion criteria provided literature only
GeneReviews RCV000005251 SCV000041366 not provided Microcephaly 5, primary, autosomal recessive no assertion provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000005251 SCV001469303 pathogenic Microcephaly 5, primary, autosomal recessive 2020-11-12 no assertion criteria provided 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.