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
19 6 167 96 67 2 300

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary autosomal recessive microcephaly 3 16 2 116 1 21 2 153
not provided 3 3 29 58 42 0 130
not specified 0 0 20 37 22 0 74
Primary Microcephaly, Recessive 0 0 12 8 4 0 24
Intellectual disability; Spastic paraplegia 1 0 1 0 0 0 2
Cerebellar ataxia; Cerebellar atrophy 0 0 1 0 0 0 1
Congenital ocular coloboma; intellectual deficiency; Muscular hypotonia 0 0 1 0 0 0 1
Corpus callosum, agenesis of 0 1 0 0 0 0 1
Microcephaly 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 103 9 6 0 118
Genetic Services Laboratory, University of Chicago 6 0 43 20 19 0 88
GeneDx 0 1 18 21 36 0 76
Invitae 0 0 0 53 16 0 69
GeneReviews 2 0 0 0 16 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 9 4 0 0 13
OMIM 9 0 0 0 0 0 9
PreventionGenetics,PreventionGenetics 0 0 0 1 8 0 9
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 1 2 0 2 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 5 0 5
Lineagen, Inc 2 0 1 0 0 0 3
Mayo Clinic Genetic Testing 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 0 3
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 1 0 2 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 2 0 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 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
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1

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