ClinVar Miner

Variants in gene CPLANE1

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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
235 186 1277 950 167 69 2600

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 185 69 927 886 155 0 2141
Orofaciodigital syndrome type 6; Joubert syndrome 17 33 77 424 53 5 1 592
Joubert syndrome 17 63 29 163 26 34 9 298
not specified 0 0 41 65 50 0 122
Inborn genetic diseases 8 1 64 18 0 0 91
CPLANE1-related disorder 12 7 22 31 3 0 74
Joubert syndrome and related disorders 19 13 0 0 0 0 32
Orofaciodigital syndrome type 6 14 8 7 0 1 0 30
Ovarian serous cystadenocarcinoma 0 0 0 0 0 13 13
Joubert syndrome 1 4 4 0 0 0 0 8
Familial cancer of breast 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 7 7
Sarcoma 0 0 0 0 0 7 7
See cases 5 1 1 0 0 0 7
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 7 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Acute myeloid leukemia 0 0 0 0 0 6 6
Joubert syndrome 2 4 0 0 0 0 6
Lung cancer 0 0 0 0 0 6 6
Focal segmental glomerulosclerosis 2 3 0 0 0 0 5
Thymoma 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Nephronophthisis 0 1 3 0 0 0 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 4 4
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Global developmental delay; Jaundice 3 0 0 0 0 0 3
Cholangiocarcinoma 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Craniosynostosis syndrome 0 0 2 0 0 0 2
Intellectual disability 0 0 0 0 2 0 2
Lymphoma 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Polydactyly; Encephalocele; Dysgenesis of the cerebellar vermis; Median cleft lip and palate 0 2 0 0 0 0 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Astrocytoma; Cleft palate; Cleft lip 0 0 1 0 0 0 1
Autoimmune interstitial lung disease-arthritis syndrome 0 0 1 0 0 0 1
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Global developmental delay; Typical Joubert syndrome MRI findings 0 1 0 0 0 0 1
Hematuria, benign familial, 1 0 0 1 0 0 0 1
Joubert-orofaciodigital syndrome 0 0 1 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 93
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 162 38 823 778 84 0 1885
Fulgent Genetics, Fulgent Genetics 29 74 420 51 5 0 579
GeneDx 29 17 116 100 108 0 370
Illumina Laboratory Services, Illumina 0 0 128 21 29 0 178
PreventionGenetics, part of Exact Sciences 7 7 19 44 38 0 115
CeGaT Center for Human Genetics Tuebingen 13 4 15 63 4 0 99
Ambry Genetics 8 1 64 18 0 0 91
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 14 31 3 7 0 75
Breakthrough Genomics, Breakthrough Genomics 0 0 7 23 43 0 73
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 60 60
Genetic Services Laboratory, University of Chicago 5 2 13 32 3 0 55
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 0 5 23 8 0 39
UW Hindbrain Malformation Research Program, University of Washington 38 1 0 0 0 0 39
Eurofins Ntd Llc (ga) 4 2 18 2 11 0 37
Mayo Clinic Laboratories, Mayo Clinic 0 2 5 3 18 0 28
Revvity Omics, Revvity 3 7 11 1 0 0 22
Baylor Genetics 3 1 13 1 0 0 18
Clinical Genetics, Academic Medical Center 0 0 1 4 13 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 1 5 0 0 0 17
3billion 1 5 3 2 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 3 3 5 0 0 0 11
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
Dasa 8 1 0 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 2 2 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 5 1 1 0 8
Daryl Scott Lab, Baylor College of Medicine 5 0 3 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 1 5 0 8
GeneReviews 1 0 0 0 0 7 8
Gharavi Laboratory, Columbia University 0 2 6 0 0 0 8
Mendelics 6 2 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 6 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 1 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 2 2 0 0 0 6
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 6 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 0 0 5
Institute of Medical Genetics, University of Zurich 3 2 0 0 0 0 5
Molecular Lab, University of Sulaimaniyah 2 3 0 0 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 0 2 0 4
Centre of Medical Genetics, University Hospital Muenster 3 0 1 0 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 2 2 0 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 2 2 0 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 2 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 1 1 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 2 1 0 4
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 4 0 0 0 0 0 4
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 3 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 1 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 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
OLLIN Analises Genomicas, OLLIN 3 0 0 0 0 0 3
Center for Reproductive Medicine, Peking University Third Hospital 0 2 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 1 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
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 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
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 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
New York Genome Center 2 0 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
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 2 0 0 0 0 2
Sheng Clinic, Gansu Aier Optometry Hospital 0 2 0 0 0 0 2
Bionano Laboratories 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 0 1 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 1 0 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 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
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1

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