ClinVar Miner

Variants in gene combination IGF1R, IRAIN

See also:
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 total
1 2 12 9 4 26

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 7 8 2 17
Growth delay due to insulin-like growth factor I resistance 0 1 4 1 3 8
IGF1R-related condition 0 0 1 2 0 3
Inborn genetic diseases 0 0 3 0 0 3
Neurodevelopmental disorder 0 1 0 0 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 6 8 2 17
Illumina Laboratory Services, Illumina 0 0 2 0 3 5
Ambry Genetics 0 0 3 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 1 2 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 1 2
GeneDx 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1

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