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 |
433
|
243
|
2033
|
1291
|
81
|
12
|
3981
|
Gene and significance breakdown #
Total genes and gene combinations: 16
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
SDHA
|
175
|
96
|
1323
|
891
|
57
|
9
|
2487
|
SDHB
|
180
|
73
|
547
|
353
|
21
|
1
|
1136
|
TP53
|
57
|
60
|
86
|
5
|
2
|
0 |
203
|
LOC129929542, SDHB
|
6
|
1
|
28
|
29
|
0 |
0 |
64
|
SDHAF2
|
4
|
12
|
43
|
4
|
1
|
2
|
64
|
LOC129929541, SDHB
|
3
|
0 |
2
|
9
|
0 |
0 |
14
|
LOC129929541, LOC129929542, SDHB
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
LOC129929542, LOC129929543, SDHB
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CHEK2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC129929541, LOC129929542, LOC129929543, PADI2, SDHB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC129929542, LOC129929543, PADI2, SDHB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LYST
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MYB, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MYBL1, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SDHD
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ZMYND11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
336
|
105
|
1863
|
1265
|
70
|
0 |
3638
|
Myriad Genetics, Inc.
|
106
|
52
|
35
|
9
|
3
|
0 |
205
|
Baylor Genetics
|
47
|
41
|
114
|
0 |
0 |
0 |
202
|
Fulgent Genetics, Fulgent Genetics
|
26
|
22
|
116
|
16
|
2
|
0 |
182
|
Counsyl
|
2
|
7
|
50
|
13
|
2
|
0 |
74
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
3
|
0 |
13
|
36
|
0 |
53
|
Color Diagnostics, LLC DBA Color Health
|
10
|
4
|
1
|
4
|
11
|
0 |
30
|
OMIM
|
23
|
0 |
0 |
0 |
0 |
0 |
23
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
3
|
1
|
17
|
0 |
0 |
0 |
21
|
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University
|
0 |
19
|
0 |
0 |
0 |
0 |
19
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
8
|
1
|
1
|
0 |
0 |
0 |
10
|
MGZ Medical Genetics Center
|
7
|
1
|
0 |
0 |
0 |
0 |
8
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
6
|
1
|
1
|
0 |
0 |
0 |
8
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
4
|
4
|
0 |
0 |
0 |
0 |
8
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
6
|
1
|
0 |
0 |
0 |
0 |
7
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
2
|
3
|
0 |
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
3
|
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genome Sciences Centre, British Columbia Cancer Agency
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
3billion, Medical Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
1
|
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
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, Region Ostergotland
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
deCODE genetics, Amgen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Medical Genetics, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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