ClinVar Miner

Variants in gene CDK5RAP2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
47 30 445 396 108 20 930

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 24 12 211 335 107 0 660
Microcephaly 3, primary, autosomal recessive 27 16 137 6 11 20 207
Inborn genetic diseases 1 0 161 24 0 0 186
not specified 1 0 29 35 22 0 85
CDK5RAP2-related disorder 2 1 7 33 4 0 47
Primary Microcephaly, Recessive 0 0 12 8 4 0 24
Intellectual disability 0 0 0 6 0 0 6
See cases 0 0 2 0 0 0 2
Congenital ocular coloboma; intellectual deficiency; Hypotonia 0 0 1 0 0 0 1
Corpus callosum, agenesis of 0 1 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Microcephaly 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 21 6 174 249 42 0 492
GeneDx 1 2 43 80 80 0 206
Ambry Genetics 1 0 161 24 0 0 186
Illumina Laboratory Services, Illumina 0 0 102 9 6 0 117
Genetic Services Laboratory, University of Chicago 6 0 47 22 19 0 94
Breakthrough Genomics, Breakthrough Genomics 0 1 6 26 38 0 71
PreventionGenetics, part of Exact Sciences 2 1 7 34 12 0 56
CeGaT Center for Human Genetics Tuebingen 3 1 10 28 0 0 42
GeneReviews 1 0 0 0 0 17 18
Revvity Omics, Revvity 3 1 10 0 0 0 14
Baylor Genetics 2 0 10 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 10 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 10 0 10
OMIM 9 0 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 6 1 0 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 2 2 1 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 8
Eurofins Ntd Llc (ga) 1 1 2 0 2 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 6 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 5 0 6
Service de Génétique Moléculaire, Hôpital Robert Debré 1 2 0 2 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 3 0 0 0 5
Department of Medical Genetics, Kayseri City Hospital 3 1 0 0 0 0 4
Bionano Laboratories 2 0 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 2 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 0 2
Department of Clinical Genetics, Oxford University Hospitals NHS Trust 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 2
DeNA Laboratory, DeNA Laboratory 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Dr. Guy Rouleau's laboratory, McGill University 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Laboratory of Molecular and Cellular Screening Processes, Centre of Biotechnology of Sfax 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1

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