ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)

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
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean RCV002463372 SCV002525508 likely pathogenic Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 2021-10-29 no assertion criteria provided clinical testing
OMIM RCV002463372 SCV003935021 pathogenic Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 2023-06-21 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.