ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.3551del (p.Asn1184fs)

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 of Medical Genetics, National & Kapodistrian University of Athens RCV004596020 SCV005090996 pathogenic Clark-Baraitser syndrome 2024-07-12 criteria provided, single submitter clinical testing PVS1, PS2, PM2 -The variant is expected to result in an absent or disrupted protein product. Not observed in large population cohorts (gnomAD). The variant was detected de novo (paternity confirmed).

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.