ClinVar Miner

Submissions for variant NM_207037.2(TCF12):c.1035+3G>C

dbSNP: rs886037640
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
GeneDx RCV004794355 SCV005414743 likely pathogenic not provided 2024-05-20 criteria provided, single submitter clinical testing Published mRNA studies suggest a damaging effect with the skipping of exon 12 (PMID: 23354436); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 23354436, 25985138)
OMIM RCV000049329 SCV000081761 pathogenic TCF12-related craniosynostosis 2013-03-01 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.