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 |
affects |
association |
other |
not provided |
total |
346
|
262
|
770
|
130
|
219
|
5
|
1
|
1
|
6
|
1619
|
Gene and significance breakdown #
Total genes and gene combinations: 33
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
other |
not provided |
total |
ABCB11
|
83
|
96
|
121
|
27
|
36
|
0 |
0 |
0 |
0 |
333
|
ATP8B1
|
40
|
47
|
116
|
12
|
40
|
0 |
0 |
0 |
6
|
249
|
ABCC2
|
19
|
10
|
97
|
13
|
25
|
0 |
0 |
0 |
0 |
157
|
ABCB4
|
35
|
31
|
60
|
6
|
16
|
0 |
0 |
0 |
0 |
138
|
SLCO1B3, SLCO1B3-SLCO1B7
|
5
|
0 |
100
|
19
|
25
|
0 |
0 |
0 |
0 |
137
|
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
|
45
|
19
|
66
|
9
|
9
|
5
|
0 |
1
|
0 |
122
|
SLCO1B1
|
4
|
0 |
78
|
18
|
28
|
0 |
0 |
0 |
0 |
118
|
VPS33B
|
17
|
7
|
40
|
8
|
14
|
0 |
1
|
0 |
0 |
87
|
TJP2
|
32
|
17
|
13
|
1
|
8
|
0 |
0 |
0 |
0 |
68
|
UTP4
|
0 |
0 |
28
|
4
|
8
|
0 |
0 |
0 |
0 |
39
|
USP53
|
10
|
13
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
28
|
VIPAS39
|
11
|
4
|
5
|
2
|
0 |
0 |
0 |
0 |
0 |
22
|
ABCB11, LOC126806400
|
6
|
7
|
9
|
1
|
0 |
0 |
0 |
0 |
0 |
21
|
MYO5B
|
11
|
0 |
4
|
3
|
1
|
0 |
0 |
0 |
0 |
19
|
NR1H4
|
5
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
ABCC2, LOC108281165
|
0 |
0 |
7
|
1
|
1
|
0 |
0 |
0 |
0 |
9
|
SLCO1B3
|
2
|
0 |
3
|
1
|
3
|
0 |
0 |
0 |
0 |
9
|
KIF12
|
4
|
4
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
ZFYVE19
|
6
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
ABCC2, LOC126861012
|
0 |
0 |
2
|
3
|
2
|
0 |
0 |
0 |
0 |
7
|
ABCC2, LOC126861013
|
1
|
2
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
7
|
ATP8B1, LOC126862761
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
ABCB4, LOC129998756
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
FBN1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MYO5B, SNHG22
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
SLC51A
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SLCO1B1, SLCO1B3, SLCO1B7
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ABCB4, LOC129998757
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ATP8B1, LOC126862761, LOC126862762, LOC129390999
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
F12
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GLB1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SEMA7A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UGT1A1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
association |
other |
not provided |
total |
Illumina Laboratory Services, Illumina
|
8
|
4
|
529
|
76
|
171
|
0 |
0 |
0 |
0 |
779
|
Baylor Genetics
|
89
|
96
|
26
|
0 |
0 |
0 |
0 |
0 |
0 |
210
|
OMIM
|
117
|
0 |
1
|
0 |
0 |
5
|
0 |
0 |
0 |
118
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
6
|
0 |
34
|
28
|
23
|
0 |
0 |
0 |
0 |
91
|
Fulgent Genetics, Fulgent Genetics
|
6
|
8
|
46
|
12
|
5
|
0 |
0 |
0 |
0 |
77
|
Natera, Inc.
|
13
|
5
|
22
|
20
|
16
|
0 |
0 |
0 |
0 |
76
|
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH
|
49
|
20
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
70
|
Genome-Nilou Lab
|
1
|
0 |
2
|
0 |
53
|
0 |
0 |
0 |
0 |
56
|
Neuberg Centre For Genomic Medicine, NCGM
|
7
|
20
|
26
|
1
|
0 |
0 |
0 |
0 |
0 |
53
|
3billion
|
23
|
13
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
47
|
Revvity Omics, Revvity
|
4
|
5
|
37
|
0 |
0 |
0 |
0 |
0 |
0 |
46
|
Mendelics
|
15
|
17
|
7
|
0 |
4
|
0 |
0 |
0 |
0 |
43
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
10
|
16
|
16
|
0 |
0 |
0 |
0 |
0 |
0 |
42
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
20
|
17
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
37
|
Genetic Services Laboratory, University of Chicago
|
7
|
3
|
11
|
0 |
0 |
0 |
0 |
1
|
0 |
22
|
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University
|
14
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University
|
7
|
0 |
0 |
1
|
6
|
0 |
0 |
0 |
0 |
14
|
MGZ Medical Genetics Center
|
3
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Genetics and Molecular Pathology, SA Pathology
|
4
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Centogene AG - the Rare Disease Company
|
3
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
3
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
4
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Neonatal Research Center, Shiraz University of Medical Science
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
3
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine
|
2
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
2
|
0 |
3
|
1
|
0 |
0 |
0 |
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Ege University Pediatric Genetics, Ege University
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Hadassah Hebrew University Medical Center
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics Laboratory, CHU Lille
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Lifecell International Pvt. Ltd
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Immunology and Liver Gene Transfer, Genethon
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FirmaLab, FirmaLab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
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 |
1
|
Department of Molecular and Human Genetics, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, 1st Faculty of Medicine, Charles University in Prague
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Research Center for Immunodeficiencies, Tehran University of Medical Sciences
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genesis Genoma Lab, Genesis Genoma Lab
|
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
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Liver Center, Tokai University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Diagnostics Department, Viafet Genomics Laboratory
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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