ClinVar Miner

Variants studied for Joubert syndrome 17

Included ClinVar conditions (9):
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
84 22 198 54 62 384

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
CPLANE1 71 18 175 36 51 316
TCTN3 3 1 14 11 9 38
OFD1 8 1 4 1 0 14
PDE6D 2 2 2 4 1 10
CPLANE1, LOC105374727 0 0 3 0 0 3
COQ8A 0 0 0 0 1 1
CRYGD, LOC100507443 0 0 0 1 0 1
GH-LCR, SCN4A 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 140 21 30 191
Invitae 22 4 36 27 48 137
UW Hindbrain Malformation Research Program,University of Washington 43 1 0 0 0 44
Baylor Genetics 4 1 16 0 0 21
OMIM 16 0 1 0 0 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 7 6 13
Broad Institute Rare Disease Group, Broad Institute 5 2 2 2 1 12
Genetic Services Laboratory, University of Chicago 4 1 4 0 0 9
Fulgent Genetics,Fulgent Genetics 2 0 5 0 0 7
GeneReviews 6 0 0 0 0 6
Institute of Medical Genetics,University of Zurich 4 2 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 3 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 1 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 0 3
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 2
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 1

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