ClinVar Miner

Variants studied for Joubert syndrome 6

Included ClinVar conditions (8):
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 total
59 55 181 26 8 314

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TMEM67 58 55 181 26 8 313
MCM8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 23 35 118 24 0 200
Illumina Laboratory Services, Illumina 0 0 51 2 8 61
UW Hindbrain Malformation Research Program, University of Washington 34 5 0 0 0 39
Department of Pathology and Laboratory Medicine, Sinai Health System 4 2 9 0 0 15
OMIM 12 0 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 4 0 0 9
3billion 1 3 1 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
Baylor Genetics 1 0 1 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 2
Genotek, Genotek Ltd. 0 0 2 0 0 2
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 2 0 0 0 0 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Suma Genomics 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1

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