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 |
likely risk allele |
risk factor |
uncertain risk allele |
not provided |
total |
197
|
197
|
378
|
241
|
112
|
31
|
2
|
25
|
31
|
865
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
risk factor |
uncertain risk allele |
not provided |
total |
Invitae
|
74
|
7
|
122
|
141
|
39
|
0 |
0 |
0 |
0 |
383
|
ClinGen Monogenic Diabetes Variant Curation Expert Panel
|
84
|
78
|
123
|
8
|
9
|
0 |
0 |
0 |
0 |
302
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
28
|
41
|
24
|
24
|
70
|
31
|
0 |
25
|
0 |
240
|
GeneDx
|
30
|
14
|
28
|
36
|
31
|
0 |
0 |
0 |
0 |
139
|
Athena Diagnostics Inc
|
45
|
11
|
45
|
9
|
28
|
0 |
0 |
0 |
0 |
138
|
Ambry Genetics
|
20
|
10
|
17
|
48
|
10
|
0 |
0 |
0 |
0 |
105
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
15
|
24
|
28
|
19
|
5
|
0 |
0 |
0 |
3
|
94
|
Genetic Services Laboratory, University of Chicago
|
15
|
8
|
26
|
23
|
8
|
0 |
0 |
0 |
0 |
80
|
PreventionGenetics, part of Exact Sciences
|
6
|
6
|
8
|
30
|
13
|
0 |
0 |
0 |
0 |
63
|
Fulgent Genetics, Fulgent Genetics
|
5
|
4
|
33
|
16
|
1
|
0 |
0 |
0 |
0 |
59
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
24
|
10
|
11
|
0 |
0 |
0 |
0 |
46
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
7
|
2
|
31
|
0 |
0 |
0 |
0 |
0 |
0 |
40
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
29
|
29
|
CeGaT Center for Human Genetics Tuebingen
|
5
|
2
|
5
|
9
|
5
|
0 |
0 |
0 |
0 |
26
|
Geisinger Clinic, Geisinger Health System
|
19
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
24
|
OMIM
|
19
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
21
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
6
|
1
|
3
|
1
|
4
|
0 |
0 |
0 |
0 |
15
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
1
|
13
|
0 |
0 |
0 |
0 |
14
|
Mendelics
|
1
|
1
|
5
|
1
|
4
|
0 |
0 |
0 |
0 |
12
|
Baylor Genetics
|
1
|
1
|
10
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
5
|
0 |
4
|
0 |
0 |
0 |
0 |
11
|
Personalized Diabetes Medicine Program, University of Maryland School of Medicine
|
0 |
0 |
7
|
2
|
1
|
0 |
0 |
0 |
0 |
10
|
Molecular Genetics, Madras Diabetes Research Foundation
|
3
|
3
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
10
|
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre
|
5
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
0 |
0 |
0 |
9
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
6
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital
|
0 |
7
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
6
|
0 |
1
|
0 |
0 |
0 |
0 |
7
|
Gharavi Laboratory, Columbia University
|
4
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
New York Genome Center
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
2
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Translational Genomics Laboratory, University of Maryland School of Medicine
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
MGZ Medical Genetics Center
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Experimental Endocrinology, Slovak Academy of Sciences
|
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
3
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MVZ Dr. Eberhard & Partner Dortmund
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
National Newborn Screening Laboratory, Hospital Nacional de Niños
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
deCODE genetics, Amgen
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
2
|
SNPedia
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
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 |
1
|
Snyder Lab, Genetics Department, Stanford University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Endocrinology, Diabetes & Metabolism, Max Healthcare Institute Ltd.
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
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 |
1
|
Human Genetics Section, Sidra Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Phenosystems SA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laan Lab, Human Genetics Research Group, University of Tartu
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Stone Lab, Washington University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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