ClinVar Miner

Variants studied for TELO2-related intellectual disability-neurodevelopmental disorder

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
9 7 17 2 8 40

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TELO2 9 7 16 2 8 39
JMJD1C 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 0 0 8 8
Baylor Genetics 0 0 6 0 0 6
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 6 0 0 0 0 6
OMIM 6 0 0 0 0 6
Mendelics 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Revvity Omics, Revvity 0 2 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 1 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 0 2 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
3billion 0 0 0 1 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 1
DASA 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.