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 |
483
|
52
|
1104
|
863
|
148
|
2
|
2583
|
Gene and significance breakdown #
Total genes and gene combinations: 15
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
RB1
|
469
|
50
|
1086
|
861
|
139
|
2
|
2538
|
LPAR6, RB1
|
6
|
0 |
1
|
2
|
9
|
0 |
18
|
RB1, RB1-DT
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
ITM2B, LPAR6, MED4, NUDT15, RB1
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
ITM2B, MED4, NUDT15, RB1
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
PTCH1
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
LOC130009754, LOC130009755, LPAR6, RB1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CDKN2A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FANCM
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ITM2B, LOC124885096, LOC130009751, LOC130009752, LOC130009753, LOC130009754, LOC130009755, RB1, RB1-DT
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130009754, LOC130009755, RB1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MAX
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MUTYH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NF1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PALB2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
371
|
24
|
1016
|
837
|
115
|
0 |
2363
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
50
|
21
|
22
|
0 |
93
|
Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine
|
65
|
0 |
2
|
0 |
0 |
0 |
67
|
Mendelics
|
4
|
1
|
15
|
10
|
22
|
0 |
52
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
15
|
2
|
21
|
0 |
0 |
0 |
38
|
OMIM
|
25
|
0 |
0 |
0 |
0 |
0 |
25
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
20
|
5
|
0 |
0 |
0 |
0 |
25
|
Color Diagnostics, LLC DBA Color Health
|
0 |
0 |
5
|
3
|
12
|
0 |
20
|
Genetics and Molecular Pathology, SA Pathology
|
12
|
2
|
2
|
0 |
0 |
0 |
16
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
2
|
12
|
0 |
14
|
Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
6
|
2
|
1
|
0 |
0 |
0 |
9
|
Baylor Genetics
|
4
|
2
|
2
|
0 |
0 |
0 |
8
|
Genetics Program, Instituto Nacional de Cancer
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Database of Curated Mutations (DoCM)
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Revvity Omics, Revvity Omics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Medgenome Labs Pvt Ltd
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Medical Molecular Genetics, University of Birmingham
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
deCODE genetics, Amgen
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Genetics Clinic, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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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
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