ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)

gnomAD frequency: 0.00003  dbSNP: rs878853271
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
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000225104 SCV000298025 pathogenic TELO2-related intellectual disability-neurodevelopmental disorder criteria provided, single submitter research
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000225104 SCV000584063 pathogenic TELO2-related intellectual disability-neurodevelopmental disorder 2017-06-08 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000734871 SCV000863049 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing
OMIM RCV000225104 SCV000282067 pathogenic TELO2-related intellectual disability-neurodevelopmental disorder 2019-09-10 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.