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
21 27 575 308 102 9 2 969

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
not provided 13 12 237 247 55 0 0 535
Growth delay due to insulin-like growth factor I resistance 6 10 333 55 62 9 1 471
IGF1R-related condition 0 1 8 28 10 0 0 47
Inborn genetic diseases 3 0 25 1 0 0 0 29
not specified 0 0 5 8 15 0 0 27
Intellectual disability 0 1 2 0 0 0 0 3
Neurodevelopmental disorder 0 2 1 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
Keratoconus 0 1 0 0 0 0 0 1
Microcephaly 0 1 0 0 0 0 0 1
NK-cell enteropathy 0 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1
Short stature 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Invitae 5 1 152 226 49 0 0 433
Illumina Laboratory Services, Illumina 0 0 295 53 61 0 0 408
GeneDx 6 9 55 3 4 0 0 77
Eurofins Ntd Llc (ga) 2 1 32 4 9 0 0 48
PreventionGenetics, part of Exact Sciences 0 1 8 28 10 0 0 47
CeGaT Center for Human Genetics Tuebingen 1 0 9 23 6 0 0 39
Ambry Genetics 3 0 25 1 0 0 0 29
Revvity Omics, Revvity 0 0 13 0 0 0 0 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 8 4 0 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 6 0 0 12
Baylor Genetics 0 0 11 0 0 0 0 11
OMIM 0 0 0 0 0 9 0 9
Centre de recherche St Antoine, Sorbonne Université, INSERM, Sorbonne University 4 4 0 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 2 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 2 2 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 4
3billion 0 2 2 0 0 0 0 4
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 1 0 2 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 0 2
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 0 1
Bionano Laboratories 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 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
Indiana University School of Medicine, Medical & Molecular Genetics, Indiana University School of Medicine 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 0 1

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