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 |
188
|
54
|
130
|
43
|
153
|
11
|
563
|
Gene and significance breakdown #
Total genes and gene combinations: 9
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
|
23
|
7
|
28
|
37
|
149
|
0 |
244
|
Cavalleri Lab, Royal College of Surgeons in Ireland
|
62
|
10
|
20
|
0 |
0 |
0 |
92
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
34
|
19
|
36
|
0 |
0 |
0 |
89
|
Mendelics
|
9
|
2
|
9
|
4
|
5
|
0 |
29
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
26
|
0 |
26
|
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues
|
10
|
1
|
10
|
0 |
0 |
0 |
21
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
Institute of Human Genetics,Cologne University
|
5
|
5
|
5
|
0 |
0 |
0 |
15
|
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
|
8
|
2
|
4
|
0 |
0 |
0 |
14
|
Fulgent Genetics,Fulgent Genetics
|
6
|
1
|
5
|
0 |
0 |
0 |
12
|
Centre for Genetic Disorders, Banaras Hindu University
|
9
|
0 |
0 |
0 |
0 |
1
|
10
|
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
3
|
3
|
1
|
0 |
0 |
8
|
Johns Hopkins Genomics,Johns Hopkins University
|
1
|
0 |
7
|
0 |
0 |
0 |
8
|
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada)
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Institute of Human Genetics,Klinikum rechts der Isar
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Arkana Molecular Diagnostic Laboratory,Arkana Laboratories
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
PreventionGenetics,PreventionGenetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Uniklinik RWTH Aachen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network,NIH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Broad Institute Rare Disease Group,Broad Institute
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Genetics,Sultan Qaboos University Hospital, Oman
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Medical Genetics,Necip Fazıl Sehir Hastanesi
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
University of Iowa Renal Genetics Clinic,University of Iowa
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Stefan Somlo Laboratory,Yale School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development,BGI Genomics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Swedish Neurofibromatosis Center,Swedish Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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