ClinVar Miner

Variants in gene CC2D2A

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Gene type:
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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
99 63 427 162 58 671

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Joubert syndrome; Meckel-Gruber syndrome 44 10 203 88 26 371
not provided 30 11 196 32 16 280
Joubert syndrome 9 39 6 99 8 11 160
Meckel syndrome type 6 6 28 102 3 8 143
not specified 0 0 7 58 32 70
CC2D2A-Related Disorders 1 3 34 0 0 38
Joubert syndrome with hepatic defect; Meckel syndrome type 6; Joubert syndrome 9 3 2 10 0 0 15
Joubert syndrome with hepatic defect 1 2 7 0 0 10
Meckel-Gruber syndrome 0 3 6 1 0 10
Inborn genetic diseases 2 3 2 0 0 7
Joubert syndrome 2 0 4 1 0 7
Joubert syndrome 1 2 1 0 1 2 6
COACH SYNDROME 2 4 0 0 0 0 4
Clubfoot; Encephalocele; Postaxial polydactyly 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
Polydactyly; Renal cyst; Anencephaly 1 1 0 0 0 2
Leber congenital amaurosis 1 0 0 0 0 1
Microcephaly 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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 44 10 203 105 26 388
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 20 1 163 11 11 206
Illumina Clinical Services Laboratory,Illumina 1 2 107 12 12 121
GeneDx 9 6 27 23 23 88
PreventionGenetics, PreventionGenetics 0 0 0 20 22 42
Genetic Services Laboratory, University of Chicago 5 4 4 21 3 37
UW Hindbrain Malformation Research Program,University of Washington 34 2 0 0 0 36
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 20 0 0 0 20
Baylor Genetics 4 2 8 0 0 14
Fulgent Genetics,Fulgent Genetics 3 1 10 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 10 0 0 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 3 0 0 10
OMIM 9 0 0 0 0 9
Ambry Genetics 2 3 2 0 0 7
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
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 4 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 3 0 0 5
Gharavi Laboratory,Columbia University 0 0 4 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
Athena Diagnostics Inc 0 0 0 1 1 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 2
Kasturba Medical College, Manipal University 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 1 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 2 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 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
Johns Hopkins Genomics, Johns Hopkins University 0 1 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

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