ClinVar Miner

Variants in gene CC2D2A

Minimum submission review status: Collection method:
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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
77 47 299 113 58 479

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 28 10 192 32 16 273
Joubert syndrome 9 39 5 95 8 11 156
Meckel syndrome type 6 3 23 101 3 8 136
Joubert syndrome; Meckel-Gruber syndrome 23 4 52 28 26 133
not specified 0 0 7 58 31 70
CC2D2A-Related Disorders 1 2 34 0 0 37
Joubert syndrome with hepatic defect; Meckel syndrome type 6; Joubert syndrome 9 3 1 10 0 0 14
Meckel-Gruber syndrome 1 2 6 1 0 10
Joubert syndrome 2 0 4 1 0 7
Joubert syndrome 1 2 1 0 1 2 6
Joubert syndrome with hepatic defect 3 1 2 0 0 6
Clubfoot; Encephalocele; Postaxial polydactyly type A1; Polycystic kidney dysplasia; Oligohydramnios; Microcephaly; Narrow chest 2 0 0 0 0 2
Inborn genetic diseases 0 2 0 0 0 2
Joubert syndrome 9/15, digenic 2 0 0 0 0 2
Polydactyly 0 0 1 0 0 1
Retinal dystrophy 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 20 1 163 11 11 206
Invitae 24 4 52 52 26 158
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 6 3 6 20 2 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
Fulgent Genetics,Fulgent Genetics 3 1 10 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 9 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 5 2 3 0 0 10
OMIM 9 0 0 0 0 9
Mendelics 2 2 0 1 2 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 3 2 0 6
Gharavi Laboratory,Columbia University 0 0 4 0 0 4
Athena Diagnostics Inc 0 0 0 1 1 2
Ambry Genetics 0 2 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Kasturba Medical College,Manipal University 0 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 2 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 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
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1

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