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 |
not provided |
total |
494
|
466
|
791
|
1044
|
68
|
16
|
2447
|
Gene and significance breakdown #
Total genes and gene combinations: 8
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ATP7B
|
488
|
466
|
736
|
1040
|
60
|
15
|
2375
|
ATP7B, TMEM272
|
0 |
0 |
44
|
2
|
5
|
0 |
51
|
ATP7B, LOC130009838
|
1
|
0 |
8
|
1
|
1
|
1
|
12
|
ALG11, ATP7B, UTP14C
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
ALG11, ATP7B
|
0 |
0 |
1
|
1
|
2
|
0 |
2
|
ALG11, ATP7B, CCDC70, DHRS12, FAM124A, INTS6, RNASEH2B, SERPINE3, UTP14C, WDFY2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ALG11, ATP7B, LOC130009841
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ATP7B, LOC130009836, LOC130009837
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
426
|
116
|
449
|
999
|
51
|
0 |
2041
|
Genome-Nilou Lab
|
156
|
63
|
83
|
52
|
20
|
0 |
374
|
Natera, Inc.
|
69
|
11
|
153
|
37
|
23
|
0 |
293
|
Baylor Genetics
|
164
|
99
|
9
|
0 |
0 |
0 |
272
|
Counsyl
|
37
|
137
|
88
|
4
|
0 |
0 |
266
|
Illumina Laboratory Services, Illumina
|
7
|
4
|
153
|
11
|
22
|
0 |
197
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
121
|
44
|
1
|
3
|
14
|
0 |
183
|
Fulgent Genetics, Fulgent Genetics
|
44
|
30
|
76
|
27
|
2
|
0 |
179
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
41
|
19
|
37
|
23
|
27
|
0 |
147
|
Myriad Genetics, Inc.
|
8
|
49
|
7
|
0 |
0 |
0 |
64
|
Revvity Omics, Revvity Omics
|
29
|
17
|
17
|
0 |
0 |
0 |
63
|
Color Diagnostics, LLC DBA Color Health
|
5
|
2
|
24
|
15
|
15
|
0 |
61
|
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon
|
14
|
17
|
0 |
0 |
0 |
0 |
31
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
9
|
7
|
10
|
0 |
0 |
0 |
26
|
Genetic Services Laboratory, University of Chicago
|
18
|
5
|
2
|
0 |
0 |
0 |
25
|
OMIM
|
23
|
0 |
0 |
0 |
0 |
0 |
23
|
Mendelics
|
9
|
4
|
4
|
2
|
4
|
0 |
23
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
2
|
5
|
7
|
0 |
14
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
5
|
2
|
3
|
0 |
0 |
0 |
10
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
2
|
4
|
0 |
0 |
0 |
10
|
3billion
|
5
|
2
|
3
|
0 |
0 |
0 |
10
|
SIB Swiss Institute of Bioinformatics
|
0 |
3
|
3
|
1
|
1
|
0 |
8
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Johns Hopkins Genomics, Johns Hopkins University
|
3
|
1
|
3
|
0 |
0 |
0 |
7
|
Arcensus
|
5
|
2
|
0 |
0 |
0 |
0 |
7
|
Centogene AG - the Rare Disease Company
|
5
|
0 |
1
|
0 |
0 |
0 |
6
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Institute of Human Genetics, University of Leipzig Medical Center
|
4
|
1
|
0 |
1
|
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
CSER _CC_NCGL, University of Washington
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
SingHealth Duke-NUS Institute of Precision Medicine
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Hadassah Hebrew University Medical Center
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Institute for Genomic Medicine, Nationwide Children's Hospital
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Suma Genomics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
DASA
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Courtagen Diagnostics Laboratory, Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenePathDx, GenePath diagnostics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Biologia e Medicina Molecolare, Sapienza University of Rome
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Gill Bejerano Lab, Stanford University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
deCODE genetics, Amgen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Population and Evolutionary Genetics, University of Puerto Rico at Mayaguez
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Credence Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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