ClinVar Miner

Variants studied for Joubert syndrome 17

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 not provided total
123 59 519 296 59 9 1027

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
CPLANE1 67 41 272 71 36 9 464
TCTN3 27 8 171 144 13 0 361
OFD1 13 5 19 23 3 0 62
LOC130004408, TCTN3 7 3 22 26 4 0 60
PDE6D 8 2 20 28 1 0 58
CPLANE1, LOC129389274 1 0 7 0 1 0 9
CPLANE1, LOC129993816 0 0 3 0 0 0 3
LOC129935846, PDE6D 0 0 1 2 0 0 3
LOC126863212, OFD1 0 0 2 0 0 0 2
ALPG, ALPI, ALPP, ARMC9, ATG16L1, B3GNT7, C2orf72, CAB39, CHRND, CHRNG, COPS7B, DGKD, DIS3L2, DNAJB3, ECEL1, EFHD1, EIF4E2, GIGYF2, GPR55, HJURP, HTR2B, ITM2C, KCNJ13, MROH2A, NCL, NEU2, NGEF, NMUR1, NPPC, PDE6D, PRSS56, PSMD1, PTMA, SAG, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPATA3, SPP2, TEX44, TIGD1, TRPM8, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 0 0 1 0 0 0 1
COQ8A 0 0 0 0 1 0 1
CRYGD, LOC100507443 0 0 0 1 0 0 1
ENTPD1, TCTN3 0 0 1 0 0 0 1
GH-LCR, SCN4A 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 39 7 216 199 16 0 477
Fulgent Genetics, Fulgent Genetics 23 15 150 73 6 0 267
Illumina Laboratory Services, Illumina 0 0 140 21 30 0 191
UW Hindbrain Malformation Research Program, University of Washington 43 1 0 0 0 0 44
Baylor Genetics 4 2 17 1 0 0 24
OMIM 16 0 1 0 0 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 7 6 0 13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 2 2 2 1 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 5 0 0 0 10
Genetic Services Laboratory, University of Chicago 4 1 4 0 0 0 9
GeneReviews 1 0 0 0 0 7 8
Institute of Human Genetics, University of Leipzig Medical Center 2 2 2 1 0 0 7
Institute of Medical Genetics, University of Zurich 4 2 0 0 0 0 6
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 6 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Mendelics 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
3billion 0 4 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 2 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 1 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 2 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 1 1 0 0 0 3
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 2 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 2 0 0 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1 0 0 0 0 0 1
Department of Pediatrics, National Cheng-Kung University Hospital 0 1 0 0 0 0 1

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