ClinVar Miner

Variants in gene CC2D2A

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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 total
217 124 803 1009 124 2003

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial aplasia of the vermis; Meckel-Gruber syndrome 176 49 524 875 41 1665
not provided 38 33 244 106 85 479
Joubert syndrome 9 45 13 106 8 21 187
Meckel syndrome, type 6 14 29 105 3 18 163
CC2D2A-related condition 5 3 25 89 5 127
not specified 0 0 19 54 37 80
Inborn genetic diseases 6 3 60 3 0 72
CC2D2A-Related Disorders 1 3 34 0 0 38
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 3 2 12 3 0 20
COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9 3 1 11 0 0 15
Meckel-Gruber syndrome 3 3 6 1 0 13
COACH syndrome 1 3 2 6 0 1 12
Joubert syndrome 1 3 1 0 1 2 7
Familial aplasia of the vermis 1 0 4 1 0 6
COACH syndrome 2 4 0 0 0 0 4
Neurodevelopmental disorder 3 0 1 0 0 4
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2 0 2 1 0 0 3
Retinitis pigmentosa 93 3 0 0 0 0 3
Anencephaly; Polydactyly; Renal cyst 1 1 0 0 0 2
Clubfoot; Encephalocele; Polydactyly, postaxial, type A1; Polycystic kidney disease; Oligohydramnios; Microcephaly; Narrow chest 2 0 0 0 0 2
Encephalocele; Polycystic kidney disease 2 0 0 0 0 2
Intellectual disability 0 0 2 0 0 2
Joubert syndrome 9/15, digenic 2 0 0 0 0 2
Nephronophthisis 0 0 2 0 0 2
See cases 2 0 0 0 0 2
Abnormality of prenatal development or birth 0 1 0 0 0 1
Ciliopathy 0 0 1 0 0 1
Joubert syndrome and related disorders 1 0 0 0 0 1
Leber congenital amaurosis 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 1
Neonatal encephalopathy 0 0 1 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 1
Polydactyly 0 0 1 0 0 1
Retinal dystrophy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 176 49 524 879 41 1669
GeneDx 16 17 79 84 89 285
Eurofins Ntd Llc (ga) 20 1 163 11 11 206
PreventionGenetics, part of Exact Sciences 5 3 25 108 27 168
Illumina Laboratory Services, Illumina 1 2 107 12 12 121
Ambry Genetics 6 3 60 3 0 72
Genetic Services Laboratory, University of Chicago 5 4 7 22 4 42
CeGaT Center for Human Genetics Tuebingen 3 1 10 21 2 37
UW Hindbrain Malformation Research Program, University of Washington 34 2 0 0 0 36
Fulgent Genetics, Fulgent Genetics 6 2 22 3 0 33
Revvity Omics, Revvity 6 11 14 0 0 31
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 4 9 6 22
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 20 0 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 0 11 0 0 18
Baylor Genetics 4 2 9 0 0 15
Clinical Genetics, Academic Medical Center 0 0 2 4 7 13
Genome-Nilou Lab 0 0 0 0 13 13
OMIM 12 0 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 5 4 11
Mayo Clinic Laboratories, Mayo Clinic 2 0 8 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 3 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 1 1 0 0 9
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 1 0 5 8
Mendelics 2 2 0 1 2 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 3 2 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 4 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 1 3 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 1 6
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 4 0 0 0 6
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 4 0 1 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 3 0 0 5
3billion 1 0 4 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 1 0 0 4
Gharavi Laboratory, Columbia University 0 0 4 0 0 4
New York Genome Center 0 0 4 0 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 3 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 3
Athena Diagnostics Inc 0 0 0 1 1 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 2 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 2 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 1 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 2 0 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 1
Centre for Translational Omics - GOSgene, University College London 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 1 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 1 0 0 1
Suma Genomics 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 1
Changsha Kingmed Center For Clinical Laboratory, KingMed Diagnostics 0 0 1 0 0 1

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