ClinVar Miner

Variants studied for Joubert syndrome 21

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
102 28 529 427 43 1 1120

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CSPP1 92 23 424 339 33 1 904
ARFGEF1, CSPP1 9 5 103 88 10 0 213
ARFGEF1, COPS5, CSPP1, MCMDC2, PPP1R42, SNHG6, SNORD87, TCF24 0 0 1 0 0 0 1
ARFGEF1, CPA6, CSPP1 1 0 0 0 0 0 1
COPS5, CSPP1, PPP1R42 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 84 20 523 424 43 0 1094
UW Hindbrain Malformation Research Program, University of Washington 17 0 0 0 0 0 17
Revvity Omics, Revvity 4 2 9 0 0 0 15
OMIM 11 0 0 0 0 0 11
Baylor Genetics 3 0 7 0 0 0 10
Fulgent Genetics, Fulgent Genetics 2 0 3 1 0 0 6
3billion 2 1 0 2 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 3 0 0 0 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 0 2 0 3
Genetic Services Laboratory, University of Chicago 2 1 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Medical Genetics Clinic, University of Catania 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 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.