ClinVar Miner

Variants in gene IGF1R

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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 protective not provided total
13 15 350 92 87 9 2 541

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Growth delay due to insulin-like growth factor I resistance 4 7 312 53 61 9 1 445
not provided 7 7 41 41 33 0 0 122
not specified 0 0 0 5 9 0 0 14
Inborn genetic diseases 3 0 4 0 0 0 0 7
Intellectual disability 0 1 2 0 0 0 0 3
Craniosynostosis syndrome 0 0 1 0 0 0 0 1
IGF1R-Related Disorder 0 0 0 0 0 0 1 1
NK-cell enteropathy 0 1 0 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 0 1
See cases 0 0 1 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 protective not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 295 53 61 0 0 408
Invitae 2 0 1 39 31 0 0 73
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 1 33 4 9 0 0 49
Baylor Genetics 0 0 10 0 0 0 0 10
OMIM 0 0 0 0 0 9 0 9
GeneDx 3 4 1 1 0 0 0 9
Centre de recherche St Antoine, Sorbonne Université, INSERM,Sorbonne University 4 5 0 0 0 0 0 9
Ambry Genetics 3 0 4 0 0 0 0 7
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Klinisk genetik och genomik Research,Gothenburg University 0 0 1 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1

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