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
67 40 251 71 33 385

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 28 9 189 2 0 225
Meckel-Gruber syndrome 1 2 60 7 1 71
not specified 0 0 7 58 31 70
Joubert syndrome 3 0 58 7 1 69
Joubert syndrome; Meckel-Gruber syndrome 9 0 20 13 7 49
Joubert syndrome 9 42 5 1 0 0 48
CC2D2A-Related Disorders 1 2 33 0 0 36
Meckel syndrome type 6 5 21 1 0 0 24
COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 3 1 10 0 0 14
COACH syndrome 4 1 1 0 0 6
Inborn genetic diseases 0 2 0 0 0 2
Joubert syndrome 9/15, digenic 2 0 0 0 0 2
Talipes equinovarus; Encephalocele; Postaxial polydactyly; Polycystic kidney dysplasia; Oligohydramnios; Microcephaly; Narrow chest 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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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
Illumina Clinical Services Laboratory,Illumina 1 2 62 7 1 72
GeneDx 8 5 27 16 7 63
Invitae 11 0 20 13 7 51
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 3 1 10 0 0 14
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 2 3 0 0 10
OMIM 9 0 0 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 3 2 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 0 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Mendelics 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 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

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