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 |
709
|
117
|
415
|
738
|
157
|
1
|
2116
|
Gene and significance breakdown #
Total genes and gene combinations: 10
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
COL1A1
|
631
|
99
|
391
|
702
|
151
|
0 |
1954
|
COL1A1, LOC126862586
|
61
|
9
|
20
|
36
|
6
|
0 |
131
|
COL1A2
|
13
|
9
|
0 |
0 |
0 |
1
|
23
|
COL1A1, LOC126862586, LOC130061152, LOC130061153, LOC130061154
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
ACSF2, COL1A1, EME1, LRRC59, MRPL27, PPP1R9B, SAMD14, SGCA, TMEM92, XYLT2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COL1A1, DLX3, ITGA3, PDK2, PPP1R9B, SAMD14, SGCA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COL1A1, ITGA3, PDK2, PPP1R9B, SAMD14, SGCA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COL1A1, LOC126862586, LOC130061152, LOC130061153
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL1A1, LOC130061152
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
COL1A1, SGCA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
639
|
68
|
398
|
736
|
150
|
0 |
1991
|
Department of Medical Sciences, Uppsala University
|
64
|
1
|
0 |
0 |
0 |
0 |
65
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
12
|
0 |
2
|
0 |
0 |
0 |
14
|
Molecular Genetics laboratory, Necker Hospital
|
0 |
14
|
0 |
0 |
0 |
0 |
14
|
Mendelics
|
10
|
0 |
1
|
2
|
0 |
0 |
13
|
Baylor Genetics
|
3
|
5
|
3
|
0 |
1
|
0 |
12
|
Institute of Human Genetics, Cologne University
|
6
|
3
|
0 |
0 |
0 |
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
3billion
|
6
|
0 |
2
|
0 |
0 |
0 |
8
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
4
|
2
|
1
|
0 |
0 |
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
4
|
1
|
0 |
0 |
0 |
7
|
MGZ Medical Genetics Center
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
0 |
3
|
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
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Molecular Genetics, Royal Melbourne Hospital
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
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
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM
|
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
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Breda Genetics srl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Paediatric Orthopaedics Research Lab, Christian Medical College
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Genetics, Beijing BioBiggen Technology Co., Ltd.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical and Surgical Sciences, University of Bologna
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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