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 |
other |
not provided |
total |
489
|
195
|
433
|
203
|
177
|
4
|
12
|
1424
|
Gene and significance breakdown #
Total genes and gene combinations: 13
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
PKD1
|
480
|
192
|
429
|
201
|
177
|
4
|
8
|
1402
|
MIR6511B1, PKD1
|
1
|
2
|
1
|
1
|
0 |
0 |
0 |
5
|
LRP5
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
MIR1225, PKD1
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
NTHL1, PKD1, TSC2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
PKD1, TSC2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
ALG9
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC130058211, PKD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MIR1225, NTHL1, PKD1, TSC2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PKD1, RAB26
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PKD2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SLC7A9
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TSC2
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
Fulgent Genetics, Fulgent Genetics
|
158
|
34
|
157
|
142
|
16
|
0 |
0 |
507
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
25
|
9
|
58
|
60
|
161
|
0 |
0 |
313
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
70
|
10
|
56
|
5
|
0 |
0 |
0 |
141
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
38
|
28
|
43
|
0 |
0 |
0 |
0 |
109
|
Cavalleri Lab, Royal College of Surgeons in Ireland
|
62
|
10
|
20
|
0 |
0 |
0 |
0 |
92
|
Molecular Biology Laboratory, Fundació Puigvert
|
46
|
25
|
0 |
0 |
0 |
4
|
0 |
75
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
25
|
9
|
24
|
0 |
0 |
0 |
0 |
58
|
Mendelics
|
17
|
3
|
4
|
4
|
10
|
0 |
0 |
38
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
9
|
2
|
15
|
1
|
0 |
0 |
0 |
27
|
3billion
|
10
|
11
|
6
|
0 |
0 |
0 |
0 |
27
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
22
|
1
|
3
|
0 |
0 |
0 |
0 |
26
|
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada)
|
17
|
8
|
0 |
0 |
0 |
0 |
0 |
25
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
24
|
0 |
0 |
24
|
Baylor Genetics
|
5
|
2
|
16
|
0 |
0 |
0 |
0 |
23
|
Institute of Human Genetics, Cologne University
|
5
|
7
|
8
|
0 |
0 |
0 |
0 |
20
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
0 |
16
|
MGZ Medical Genetics Center
|
8
|
1
|
7
|
0 |
0 |
0 |
0 |
16
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
13
|
3
|
0 |
0 |
0 |
0 |
0 |
16
|
Institute of Human Genetics, University of Leipzig Medical Center
|
5
|
4
|
6
|
1
|
0 |
0 |
0 |
16
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
2
|
10
|
0 |
0 |
0 |
0 |
15
|
Revvity Omics, Revvity Omics
|
3
|
1
|
8
|
0 |
0 |
0 |
0 |
12
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
1
|
8
|
1
|
0 |
0 |
0 |
11
|
Centre for Molecular Medicine & Biobanking, University of Malta
|
3
|
4
|
4
|
0 |
0 |
0 |
0 |
11
|
Centre for Genetic Disorders, Banaras Hindu University
|
9
|
0 |
0 |
0 |
0 |
0 |
1
|
10
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
1
|
4
|
5
|
0 |
0 |
0 |
0 |
10
|
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino"
|
0 |
2
|
3
|
4
|
0 |
0 |
0 |
9
|
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Eurofins-Biomnis
|
4
|
4
|
0 |
0 |
0 |
0 |
0 |
8
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
1
|
5
|
0 |
0 |
0 |
0 |
7
|
Prenatal Diagnosis Center, Inner Mongolia Medical University
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
2
|
0 |
4
|
0 |
0 |
0 |
0 |
6
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
6
|
Molecular Genetics, Royal Melbourne Hospital
|
2
|
1
|
3
|
0 |
0 |
0 |
0 |
6
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Genesis Genoma Lab, Genesis Genoma Lab
|
0 |
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Department of Human Genetics, Hannover Medical School
|
0 |
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
5
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
University of Iowa Renal Genetics Clinic, University of Iowa
|
0 |
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Arkana Molecular Diagnostic Laboratory, Arkana Laboratories
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics, Medical University of Vienna
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Preventiongenetics, part of Exact Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Shanghai First Maternity and Infant Hospital, Tongji University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HSP Biomedical Diagnostics Department, Hospital San Pedro
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics, Necip Fazıl Sehir Hastanesi
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Stefan Somlo Laboratory, Yale School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Swedish Neurofibromatosis Center, Swedish Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Nephrology, Qingdao Municipal Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Urology, Hunan Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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