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 |
total |
151
|
232
|
637
|
319
|
73
|
2
|
1308
|
Gene and significance breakdown #
Total genes and gene combinations: 16
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
total |
ABCC8
|
89
|
178
|
248
|
48
|
18
|
0 |
534
|
HADH
|
16
|
16
|
87
|
153
|
11
|
2
|
258
|
GLUD1
|
11
|
5
|
72
|
42
|
14
|
0 |
133
|
KCNJ11
|
12
|
21
|
91
|
11
|
7
|
0 |
128
|
GCK
|
15
|
8
|
50
|
24
|
9
|
0 |
106
|
SLC16A1
|
1
|
1
|
44
|
10
|
4
|
0 |
60
|
ABCC8, LOC110121471
|
2
|
1
|
3
|
8
|
2
|
0 |
16
|
LOC129931218, SLC16A1
|
2
|
0 |
13
|
1
|
0 |
0 |
16
|
GLUD1, SHLD2
|
0 |
0 |
9
|
6
|
0 |
0 |
15
|
GLUD1, LOC130004255, SHLD2
|
0 |
0 |
6
|
7
|
1
|
0 |
13
|
HADH, LOC129992931
|
1
|
0 |
8
|
2
|
4
|
0 |
12
|
ABCC8, KCNJ11
|
0 |
0 |
4
|
3
|
2
|
0 |
7
|
GLUD1, LOC130004254
|
0 |
0 |
1
|
4
|
1
|
0 |
5
|
HNF4A
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
CYP2U1, HADH, SGMS2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HNF1A
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
likely risk allele |
total |
Illumina Laboratory Services, Illumina
|
4
|
0 |
312
|
62
|
36
|
0 |
405
|
Invitae
|
14
|
5
|
94
|
194
|
23
|
0 |
330
|
Counsyl
|
8
|
104
|
87
|
3
|
0 |
0 |
202
|
Fulgent Genetics, Fulgent Genetics
|
25
|
20
|
98
|
50
|
4
|
0 |
197
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
43
|
29
|
36
|
0 |
0 |
0 |
108
|
OMIM
|
47
|
0 |
0 |
0 |
0 |
0 |
47
|
Genetic Services Laboratory, University of Chicago
|
26
|
15
|
2
|
1
|
0 |
0 |
44
|
Myriad Genetics, Inc.
|
2
|
33
|
7
|
0 |
0 |
0 |
42
|
New York Genome Center
|
2
|
0 |
30
|
0 |
0 |
0 |
32
|
Pars Genome Lab
|
0 |
0 |
0 |
6
|
18
|
0 |
24
|
Baylor Genetics
|
4
|
8
|
7
|
0 |
0 |
0 |
19
|
Mendelics
|
6
|
3
|
3
|
3
|
1
|
0 |
16
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
9
|
3
|
0 |
0 |
0 |
0 |
12
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
10
|
0 |
10
|
3billion
|
5
|
3
|
2
|
0 |
0 |
0 |
10
|
Molecular Genetics, Madras Diabetes Research Foundation
|
3
|
5
|
2
|
0 |
0 |
0 |
10
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
1
|
0 |
5
|
1
|
2
|
9
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
2
|
1
|
4
|
0 |
0 |
0 |
7
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
0 |
4
|
0 |
0 |
0 |
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
3
|
1
|
0 |
0 |
6
|
Genome-Nilou Lab
|
1
|
0 |
1
|
1
|
3
|
0 |
6
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
NxGen MDx
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Elsea Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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