ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.427dup (p.Thr143fs) (rs199422125)

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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454240 SCV000537999 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000003619 SCV000595723 pathogenic Primary autosomal recessive microcephaly 1 2016-10-27 criteria provided, single submitter clinical testing
OMIM RCV000003619 SCV000023782 pathogenic Primary autosomal recessive microcephaly 1 2006-07-01 no assertion criteria provided literature only
GeneReviews RCV000003619 SCV000041502 pathologic Primary autosomal recessive microcephaly 1 2009-09-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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.