ClinVar Miner

Variants in gene CC2D2A

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Minimum submission review status: Collection method:
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Gene type:

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
248 198 848 1085 78 23 2126

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Joubert syndrome; Meckel-Gruber syndrome 208 61 528 994 42 0 1833
not provided 44 30 230 83 40 0 386
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 24 67 173 5 0 0 265
Joubert syndrome 9 52 17 117 8 21 0 208
Meckel syndrome, type 6 25 35 107 3 18 0 180
CC2D2A-related disorder 16 12 44 103 5 0 177
Inborn genetic diseases 8 3 132 14 0 0 157
not specified 0 0 22 50 37 0 79
COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9 3 1 12 0 0 0 16
Retinal dystrophy 3 4 8 0 0 0 15
COACH syndrome 1 2 2 6 0 1 0 11
Ciliopathy 2 1 5 0 0 0 8
Joubert syndrome 1 3 1 0 1 2 0 7
Joubert syndrome and related disorders 2 5 0 0 0 0 7
Meckel-Gruber syndrome 3 3 1 0 0 0 7
COACH syndrome 2 4 2 0 0 0 0 6
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2 1 3 2 0 0 0 6
Retinitis pigmentosa 40 5 0 0 0 0 0 5
Autosomal recessive CC2D2A-related disorders 4 0 0 0 0 0 4
Lung cancer 0 0 0 0 0 4 4
Neurodevelopmental disorder 3 0 1 0 0 0 4
Retinitis pigmentosa 93 4 0 0 0 0 0 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Optic atrophy 0 0 3 0 0 0 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
Uterine corpus endometrial carcinoma 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 2 2
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Clubfoot; Encephalocele; Polydactyly, postaxial, type A1; Polycystic kidney disease; Oligohydramnios; Microcephaly; Narrow chest 2 0 0 0 0 0 2
Encephalocele; Polycystic kidney disease 2 0 0 0 0 0 2
Intellectual disability 0 0 2 0 0 0 2
Joubert syndrome 9/15, digenic 2 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
See cases 2 0 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Abnormality of prenatal development or birth 0 1 0 0 0 0 1
Anencephaly; Polydactyly; Renal cyst 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Congenital heart disease 0 0 0 1 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Joubert syndrome 1 0 0 0 0 0 1
Joubert syndrome 10 1 0 0 0 0 0 1
Joubert syndrome and related disorders; Retinal dystrophy 0 0 0 0 0 1 1
Leber congenital amaurosis 1 0 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Meckel syndrome, type 6; Joubert syndrome 9 0 0 1 0 0 0 1
Melanoma 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Neonatal encephalopathy 0 0 1 0 0 0 1
Polydactyly 0 0 1 0 0 0 1
Susceptibility to severe COVID-19 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 98
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 208 61 528 995 42 0 1834
Fulgent Genetics, Fulgent Genetics 18 62 178 5 0 0 262
GeneDx 26 19 86 42 43 0 216
PreventionGenetics, part of Exact Sciences 9 7 41 118 26 0 201
Eurofins Ntd Llc (ga) 16 1 136 11 11 0 175
Ambry Genetics 8 3 132 14 0 0 157
Illumina Laboratory Services, Illumina 1 2 99 11 12 0 113
Mayo Clinic Laboratories, Mayo Clinic 2 2 25 19 21 0 69
CeGaT Center for Human Genetics Tuebingen 5 1 12 34 3 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 20 8 14 1 0 0 43
Breakthrough Genomics, Breakthrough Genomics 0 0 4 9 28 0 41
Genetic Services Laboratory, University of Chicago 5 4 7 20 4 0 40
UW Hindbrain Malformation Research Program, University of Washington 34 2 0 0 0 0 36
Revvity Omics, Revvity 6 7 14 0 0 0 27
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 22 22
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 4 8 6 0 21
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 20 0 0 0 0 20
3billion 7 2 9 0 0 0 18
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 3 3 10 0 0 0 16
Baylor Genetics 4 2 9 0 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 4 5 0 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 9 2 4 0 0 0 15
Genome-Nilou Lab 0 0 0 0 13 0 13
Clinical Genetics, Academic Medical Center 0 0 2 4 6 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 4 1 7 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 5 4 0 11
OMIM 10 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 1 0 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 5 0 8
Mendelics 3 2 0 1 2 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 2 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 3 2 0 0 6
Dasa 6 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 1 3 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 1 0 6
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 4 0 0 0 0 6
Variantyx, Inc. 4 2 0 0 0 0 6
Athena Diagnostics 0 0 0 1 4 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 1 0 0 0 5
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 4 0 1 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 0 4 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 2 1 0 0 3
Dubai Health Genomic Medicine Center, Dubai Health 1 1 1 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 2 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 0 0 1 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 1 0 3
Myriad Genetics, Inc. 1 2 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Center for Reproductive Medicine, Peking University Third Hospital 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 2 0 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 2 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 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 Vision Research, Yonsei University College of Medicine 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MUHC Nephrogenetics Laboratory, Research Institute of the McGill University Health Centre 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Synevo Romania 1 0 0 0 0 0 1
The International Centre for Genetic Engineering and Biotechnology China Regional Research Centre 0 0 1 0 0 0 1

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