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 total
7 4 219 37 26 9 296

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign protective total
Insulin-like growth factor 1 resistance to 0 0 184 32 17 9 241
not provided 5 4 35 2 2 0 48
not specified 0 0 0 5 9 0 14
Inborn genetic diseases 3 0 3 0 0 0 6

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective total
Illumina Clinical Services Laboratory,Illumina 0 0 182 32 17 0 230
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 33 4 9 0 49
OMIM 0 0 0 0 0 9 9
GeneDx 3 3 1 1 0 0 8
Ambry Genetics 3 0 3 0 0 0 6
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 1 0 2 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1

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