ClinVar Miner

Variants studied for Joubert syndrome with oculorenal defect

Included ClinVar conditions (11):
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
98 31 72 9 9 212

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 39 9 11 0 1 59
CC2D2A 39 6 14 0 0 58
ZNF423 1 2 24 6 5 37
TMEM216 5 12 10 2 0 26
TMEM237 8 2 4 1 2 17
TMEM138 5 0 6 0 1 11
C12orf29, CEP290 0 0 1 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 1
CAV3 0 0 1 0 0 1
SMAD6 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
UW Hindbrain Malformation Research Program,University of Washington 71 3 0 0 0 74
Invitae 4 0 31 3 7 45
Fulgent Genetics,Fulgent Genetics 13 3 21 0 0 37
OMIM 22 0 0 0 0 22
Counsyl 1 10 9 1 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 4 0 0 7
Broad Institute Rare Disease Group,Broad Institute 0 5 2 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 1 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 2 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 3 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 1 0 1

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