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
15 5 125 46 32 2 193

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Primary Microcephaly, Recessive 0 0 62 9 4 0 75
not specified 0 0 20 36 22 0 73
Primary autosomal recessive microcephaly 3 15 1 29 0 19 2 62
not provided 1 3 25 1 0 0 30
Congenital ocular coloboma; intellectual deficiency; Muscular hypotonia 0 0 1 0 0 0 1
Corpus callosum agenesis 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genetic Services Laboratory, University of Chicago 6 0 44 19 19 0 88
Illumina Clinical Services Laboratory,Illumina 0 0 63 9 4 0 76
GeneDx 0 1 18 19 10 0 48
GeneReviews 2 0 0 0 16 0 18
OMIM 9 0 0 0 0 0 9
PreventionGenetics 0 0 0 1 8 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 1 0 0 7
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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 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
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
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 1

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