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
12 10 222 74 52 9 1 361

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Insulin-like growth factor 1 resistance to 4 5 185 32 17 9 0 251
not provided 6 4 36 41 33 0 0 113
not specified 0 0 0 5 9 0 0 14
Inborn genetic diseases 3 0 3 0 0 0 0 6
Craniosynostosis 0 0 1 0 0 0 0 1
IGF1R-Related Disorder 0 0 0 0 0 0 1 1
Natural killer cell enteropathy 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 182 32 17 0 0 230
Invitae 1 0 0 39 31 0 0 71
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 33 4 9 0 0 49
OMIM 0 0 0 0 0 9 0 9
Centre de recherche St Antoine, Sorbonne Université, INSERM,Sorbonne University 4 5 0 0 0 0 0 9
GeneDx 3 3 1 1 0 0 0 8
Ambry Genetics 3 0 3 0 0 0 0 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 2 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 0 2
Lineagen Inc. 0 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 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

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