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 |
894
|
287
|
1166
|
1079
|
237
|
6
|
3456
|
Gene and significance breakdown #
Total genes and gene combinations: 20
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ENG
|
280
|
63
|
291
|
293
|
69
|
0 |
926
|
CCNH, RASA1
|
99
|
31
|
334
|
332
|
29
|
0 |
797
|
ACVRL1
|
321
|
125
|
173
|
140
|
85
|
3
|
795
|
ENG, LOC102723566
|
125
|
34
|
101
|
133
|
25
|
2
|
386
|
RASA1
|
24
|
4
|
150
|
68
|
9
|
0 |
245
|
GDF2
|
10
|
4
|
60
|
103
|
11
|
0 |
177
|
EPHB4
|
13
|
15
|
22
|
2
|
5
|
0 |
53
|
SMAD4
|
0 |
0 |
27
|
8
|
3
|
1
|
39
|
EPHB4, LOC126860124
|
7
|
8
|
8
|
0 |
0 |
0 |
20
|
GNAQ
|
4
|
1
|
0 |
0 |
0 |
0 |
4
|
PIK3CA
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
CCNH, LOC644285, RASA1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
EPHB4, SLC12A9
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
ACVRL1, LOC130007932
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AGAP10, AGAP9, ANXA8, ANXA8L1, ARHGAP22, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LRRC18, MAPK8, MSMB, NCOA4, NPY4R, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SYT15, TIMM23, TMEM273, VSTM4, WDFY4, ZNF488
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AK1, DPM2, ENG, PIP5KL1, ST6GALNAC4, ST6GALNAC6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GNA11
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KRAS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MAP2K1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PSEN1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
742
|
153
|
894
|
966
|
158
|
0 |
2913
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
172
|
87
|
57
|
0 |
306
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
60
|
12
|
35
|
24
|
64
|
0 |
195
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
62
|
35
|
6
|
13
|
1
|
0 |
117
|
Fulgent Genetics, Fulgent Genetics
|
17
|
8
|
44
|
15
|
3
|
0 |
87
|
OMIM
|
44
|
0 |
0 |
0 |
0 |
0 |
44
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
43
|
0 |
43
|
Molecular Genetics, Royal Melbourne Hospital
|
18
|
12
|
11
|
1
|
0 |
0 |
42
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
27
|
4
|
5
|
0 |
0 |
0 |
36
|
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen
|
10
|
2
|
10
|
8
|
2
|
0 |
32
|
SIB Swiss Institute of Bioinformatics
|
3
|
9
|
17
|
1
|
0 |
0 |
30
|
Rare Disease Genomics Group, St George's University of London
|
30
|
0 |
0 |
0 |
0 |
0 |
30
|
Revvity Omics, Revvity
|
4
|
1
|
13
|
0 |
0 |
0 |
18
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
11
|
2
|
2
|
0 |
0 |
0 |
15
|
Baylor Genetics
|
4
|
3
|
6
|
0 |
0 |
0 |
13
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
3
|
3
|
6
|
0 |
0 |
0 |
12
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
6
|
3
|
2
|
0 |
0 |
0 |
11
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
6
|
1
|
0 |
0 |
0 |
10
|
Genetics, Medical University of Vienna
|
0 |
8
|
0 |
0 |
0 |
0 |
8
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
5
|
2
|
0 |
0 |
8
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
5
|
1
|
1
|
0 |
0 |
0 |
7
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
4
|
0 |
0 |
0 |
0 |
6
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
2
|
1
|
0 |
1
|
0 |
6
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Goettingen
|
1
|
2
|
2
|
0 |
0 |
0 |
5
|
Mendelics
|
0 |
0 |
1
|
0 |
4
|
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
3
|
2
|
0 |
5
|
MGZ Medical Genetics Center
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
deCODE genetics, Amgen
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
3billion
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Blueprint Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
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 Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Chulalongkorn University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Gemeinschaftspraxis fuer Humangenetik Dresden
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Dermatology And Venereology, Fujian Medical University Union Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Laboratory Medicine, Seoul National University Bundang Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HHT Research Lab - C. Olivieri, University Of Pavia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Tissue Medicine and Pathology, University of Bern
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.