ClinVar Miner

Variants in gene INSR

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
44 2 103 73 48 261

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Leprechaunism syndrome 19 0 53 67 35 174
Insulin-resistant diabetes mellitus AND acanthosis nigricans 13 0 53 68 35 169
Pineal hyperplasia AND diabetes mellitus syndrome 8 0 52 67 35 162
not specified 0 0 17 11 20 47
not provided 1 2 34 1 8 46
Monogenic diabetes 0 0 4 2 2 8
Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinemic hypoglycemia familial 5; Leprechaunism syndrome; Pineal hyperplasia AND diabetes mellitus syndrome 0 0 4 0 0 4
Insulin resistance 3 0 0 0 0 3
Diabetes mellitus type 2 1 0 1 0 0 2
Hyperinsulinemic hypoglycemia familial 5 2 0 0 0 0 2
Insulin-resistant diabetes mellitus 1 0 0 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 54 68 35 157
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 29 3 8 41
OMIM 33 0 1 0 0 34
Genetic Services Laboratory, University of Chicago 2 0 14 9 3 28
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 1 19 23
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 0 4 2 2 8
GeneDx 0 2 3 0 0 5
Medical Research Institute,Tokyo Medical and Dental University 5 0 0 0 0 5
Fulgent Genetics 0 0 4 0 0 4
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 2
GeneReviews 2 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Laboratory of Molecular Biology and Genetics,St Antoine Hospital - APHP 1 0 0 0 0 1
The Translational Medicine Center of Children Development and Disease,Fudan University 1 0 0 0 0 1

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