ClinVar Miner

Variants in gene CPLANE1

See also:
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
190 113 1009 766 161 9 2039

Condition and significance breakdown #

Total conditions: 17
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 147 56 881 710 150 0 1883
Joubert syndrome 17 57 21 158 25 34 9 281
Orofaciodigital syndrome type 6; Joubert syndrome 17 19 14 137 50 5 0 225
not specified 0 0 29 63 48 0 107
CPLANE1-related condition 7 5 7 22 3 0 44
Orofaciodigital syndrome type 6 11 7 5 0 1 0 24
Joubert syndrome and related disorders 8 11 0 0 0 0 19
Familial aplasia of the vermis 2 4 5 2 0 0 13
Joubert syndrome 1 4 4 0 0 0 0 8
See cases 5 1 1 0 0 0 7
Nephronophthisis 0 1 3 0 0 0 4
Global developmental delay; Jaundice 3 0 0 0 0 0 3
Inborn genetic diseases 2 0 1 0 0 0 3
Polydactyly; Encephalocele; Dysgenesis of the cerebellar vermis; Median cleft lip and palate 0 2 0 0 0 0 2
Astrocytoma; Cleft palate; Cleft lip 0 0 1 0 0 0 1
Global developmental delay; Typical Joubert syndrome MRI findings 0 1 0 0 0 0 1
Joubert-orofaciodigital syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 127 33 798 619 79 0 1656
GeneDx 25 15 88 100 108 0 336
Fulgent Genetics, Fulgent Genetics 18 13 133 50 5 0 219
Illumina Laboratory Services, Illumina 0 0 137 23 29 0 189
PreventionGenetics, part of Exact Sciences 7 5 7 35 38 0 92
CeGaT Center for Human Genetics Tuebingen 12 2 13 38 4 0 69
Genetic Services Laboratory, University of Chicago 5 2 13 32 3 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 12 19 1 2 0 42
UW Hindbrain Malformation Research Program, University of Washington 38 1 0 0 0 0 39
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 5 23 8 0 39
Eurofins Ntd Llc (ga) 4 2 18 2 11 0 37
Baylor Genetics 3 1 13 1 0 0 18
Revvity Omics, Revvity 1 4 12 1 0 0 18
Clinical Genetics, Academic Medical Center 0 0 1 4 13 0 18
OMIM 10 0 1 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 3 0 10
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 8 0 0 10
Mendelics 6 2 0 0 0 0 8
GeneReviews 1 0 0 0 0 7 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 5 1 1 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 1 5 0 8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 2 2 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 1 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 1 0 0 0 6
Gharavi Laboratory, Columbia University 0 0 6 0 0 0 6
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 6 0 0 0 6
Institute of Medical Genetics, University of Zurich 3 2 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 3 0 1 0 0 0 4
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 3 0 0 0 4
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
Ambry Genetics 2 0 1 0 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 2 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 0 3
3billion 0 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 1 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 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
Johns Hopkins Genomics, Johns Hopkins University 1 1 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
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 2
Department of Neurology, Linyi People’s Hospital, The Eleventh Clinical Medical College of Qingdao University 2 0 0 0 0 0 2
DASA 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 0 1 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 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
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
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.