ClinVar Miner

Variants studied for Joubert syndrome 14

Included ClinVar conditions (7):
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 not provided total
59 77 491 173 48 1 829

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TMEM237 25 9 203 113 23 0 356
RPGRIP1L 16 28 187 41 17 1 288
NPHP1 12 38 86 16 4 0 155
LOC129935417, TMEM237 0 0 10 3 3 0 16
LOC126806306, NPHP1 1 2 0 0 0 0 3
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
​intergenic 1 0 0 0 0 0 1
ALS2, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, LOC129935416, LOC129935417, MPP4, TMEM237 1 0 0 0 0 0 1
C2CD6, MPP4, STRADB, TMEM237 0 0 1 0 0 0 1
C2CD6, TMEM237 1 0 0 0 0 0 1
MALL, NPHP1 1 0 0 0 0 0 1
PKD2 0 0 0 0 1 0 1
RPGRIP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 22 4 138 95 22 0 281
Illumina Laboratory Services, Illumina 0 0 218 33 23 0 274
Fulgent Genetics, Fulgent Genetics 9 28 154 43 1 0 235
Baylor Genetics 10 40 5 0 0 0 55
Genome-Nilou Lab 0 0 0 0 15 0 15
UW Hindbrain Malformation Research Program, University of Washington 14 0 0 0 0 0 14
OMIM 13 0 0 0 0 0 13
Revvity Omics, Revvity 2 0 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 2 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 0 1 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 1 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 1 0 0 0 4
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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