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 |
association |
association not found |
drug response |
likely risk allele |
uncertain risk allele |
not provided |
total |
58
|
68
|
271
|
157
|
50
|
1
|
1
|
2
|
8
|
1
|
27
|
448
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
association not found |
drug response |
likely risk allele |
uncertain risk allele |
not provided |
total |
not provided
|
37
|
23
|
79
|
141
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
283
|
Maturity onset diabetes mellitus in young
|
0 |
0 |
154
|
0 |
6
|
0 |
0 |
0 |
1
|
0 |
0 |
161
|
Hyperinsulinemic hypoglycemia, familial, 2
|
12
|
8
|
57
|
7
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
83
|
Diabetes mellitus, transient neonatal, 3
|
6
|
1
|
32
|
7
|
25
|
0 |
0 |
0 |
0 |
0 |
2
|
69
|
Maturity-onset diabetes of the young type 13
|
2
|
2
|
36
|
9
|
20
|
0 |
0 |
0 |
0 |
0 |
0 |
68
|
Permanent neonatal diabetes mellitus
|
1
|
4
|
24
|
9
|
6
|
0 |
0 |
0 |
0 |
0 |
24
|
68
|
not specified
|
0 |
1
|
27
|
12
|
13
|
0 |
0 |
0 |
0 |
0 |
0 |
50
|
Type 2 diabetes mellitus
|
4
|
20
|
3
|
0 |
3
|
1
|
1
|
0 |
4
|
0 |
1
|
36
|
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2
|
0 |
9
|
25
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
34
|
Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2
|
0 |
3
|
20
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
27
|
Inborn genetic diseases
|
0 |
0 |
12
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
21
|
Diabetes mellitus, permanent neonatal 2
|
14
|
1
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
KCNJ11-related condition
|
0 |
1
|
8
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
18
|
Neonatal diabetes mellitus
|
3
|
7
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Transitory neonatal diabetes mellitus
|
0 |
1
|
3
|
1
|
6
|
0 |
0 |
0 |
1
|
0 |
0 |
12
|
Hyperinsulinemia
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
9
|
Diabetes mellitus
|
5
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Monogenic diabetes
|
0 |
1
|
4
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Neonatal insulin-dependent diabetes mellitus
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Neonatal hypoglycemia
|
0 |
0 |
2
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
KCNJ11-Related Disorders
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Hyperinsulinism, Dominant/Recessive
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Hypoglycemia
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Transient Neonatal Diabetes, Dominant
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Atopic eczema; Hypertrichosis; Hypoglycemia; Hyperinsulinemia
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DEND syndrome
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Glibenclamide response
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Hyperinsulinemic hypoglycemia
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Permanent neonatal diabetes mellitus 1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
sulfonylureas response
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
association not found |
drug response |
likely risk allele |
uncertain risk allele |
not provided |
total |
Invitae
|
33
|
14
|
36
|
128
|
12
|
0 |
0 |
0 |
0 |
0 |
0 |
223
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
2
|
168
|
3
|
19
|
1
|
1
|
2
|
8
|
1
|
0 |
201
|
Genetic Services Laboratory, University of Chicago
|
15
|
11
|
24
|
8
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
69
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
56
|
10
|
24
|
0 |
0 |
0 |
0 |
0 |
0 |
63
|
GeneDx
|
3
|
2
|
18
|
11
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
44
|
Natera, Inc.
|
0 |
4
|
24
|
9
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
43
|
Counsyl
|
0 |
10
|
25
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
35
|
Fulgent Genetics, Fulgent Genetics
|
0 |
4
|
22
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
30
|
Baylor Genetics
|
4
|
19
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
27
|
Athena Diagnostics Inc
|
4
|
4
|
9
|
3
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
27
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
8
|
9
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
27
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
26
|
26
|
OMIM
|
24
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
24
|
Ambry Genetics
|
0 |
0 |
12
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
21
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
9
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
3
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Molecular Genetics, Madras Diabetes Research Foundation
|
3
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Revvity Omics, Revvity
|
1
|
1
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Personalized Diabetes Medicine Program, University of Maryland School of Medicine
|
0 |
0 |
4
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
3
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Pars Genome Lab
|
0 |
0 |
0 |
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
1
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Mendelics
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Translational Genomics Laboratory, University of Maryland School of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NxGen MDx
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.