ClinVar Miner

Variants studied for Joubert syndrome with oculorenal defect

Included ClinVar conditions (10):
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
101 27 51 13 30 216

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 43 7 11 0 1 62
CC2D2A 41 6 11 0 0 58
ZNF423 1 0 11 11 25 46
TMEM216 5 12 10 1 0 26
TMEM237 5 2 3 1 3 13
TMEM138 5 0 4 0 1 9
C12orf29, CEP290 0 0 1 0 0 1
C2CD6, MPP4, TMEM237 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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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 2 0 15 8 29 54
Fulgent Genetics 13 3 21 0 0 37
OMIM 22 0 0 0 0 22
Counsyl 1 10 9 1 0 21
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 11 0 0 0 0 11
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 3 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 1 5
Broad Institute Rare Disease Group,Broad Institute 0 5 0 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
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
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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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

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