ClinVar Miner

Variants studied for Joubert syndrome 6

Coded as:
Minimum submission review status: Collection method:
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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
46 13 67 2 8 131

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TMEM67 46 13 67 2 8 131

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 51 2 8 61
UW Hindbrain Malformation Research Program, University of Washington 34 5 0 0 0 39
OMIM 12 0 0 0 0 12
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 4 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
Baylor Genetics 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 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
Genome-Nilou Lab 0 0 0 0 2 2
Suma Genomics 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
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
New York Genome Center 0 0 1 0 0 1
3billion, Medical Genetics 0 0 1 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 1

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