ClinVar Miner

Variants in gene INSR

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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 uncertain risk allele not provided total
47 16 305 169 188 3 2 643

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
not provided 7 10 97 115 153 0 0 352
Leprechaunism syndrome 16 2 150 27 62 0 2 259
Insulin-resistant diabetes mellitus AND acanthosis nigricans 13 0 150 33 60 0 0 254
Rabson-Mendenhall syndrome 8 0 148 27 63 0 0 246
not specified 0 1 35 27 26 0 0 88
INSR-related condition 0 1 9 29 2 0 0 41
Inborn genetic diseases 0 0 34 1 2 0 0 37
Hyperinsulinism due to INSR deficiency 2 1 6 19 1 3 0 32
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 0 1 11 4 1 0 0 17
Monogenic diabetes 0 0 5 4 2 0 0 11
Insulin resistance 3 0 0 0 0 0 0 3
See cases 0 0 3 0 0 0 0 3
Type 2 diabetes mellitus 1 0 2 0 0 0 0 3
46,XY disorder of sex development 0 1 0 0 0 0 0 1
Bailey-Bloch congenital myopathy 0 0 0 1 0 0 0 1
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 0 0 1
INSR-related disorder 0 0 1 0 0 0 0 1
Insulin-resistant diabetes mellitus 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign uncertain risk allele not provided total
Illumina Laboratory Services, Illumina 0 0 149 27 60 0 0 235
Invitae 5 3 52 95 56 0 0 211
GeneDx 0 3 13 0 109 0 0 125
Genetic Services Laboratory, University of Chicago 3 4 29 24 13 0 0 73
PreventionGenetics, part of Exact Sciences 0 1 9 29 2 0 0 41
Eurofins Ntd Llc (ga) 1 0 29 3 8 0 0 41
Ambry Genetics 0 0 34 1 2 0 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 5 3 26 0 0 36
OMIM 32 0 1 0 0 0 0 33
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 4 18 1 3 0 26
Fulgent Genetics, Fulgent Genetics 0 1 11 4 1 0 0 17
CeGaT Center for Human Genetics Tuebingen 0 0 3 10 3 0 0 16
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 13 1 0 0 14
Personalized Diabetes Medicine Program, University of Maryland School of Medicine 0 0 5 4 2 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 5 6 0 0 11
Mendelics 0 0 1 7 2 0 0 10
Medical Research Institute, Tokyo Medical and Dental University 5 0 0 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 0 3
Revvity Omics, Revvity 0 0 3 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 1 0 0 0 2
Laboratory of Molecular Biology and Genetics, St Antoine Hospital - APHP 2 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 0 2 0 0 0 0 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
The Translational Medicine Center of Children Development and Disease, Fudan University 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern 0 1 0 0 0 0 0 1

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