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 |
other |
not provided |
total |
112
|
156
|
490
|
119
|
133
|
1
|
1
|
988
|
Gene and significance breakdown #
Total genes and gene combinations: 51
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
MET
|
8
|
1
|
152
|
40
|
64
|
0 |
1
|
254
|
TP53
|
55
|
93
|
76
|
5
|
2
|
0 |
0 |
221
|
FLCN
|
11
|
4
|
70
|
26
|
2
|
0 |
0 |
113
|
ELP4, PAX6
|
2
|
0 |
57
|
2
|
37
|
0 |
0 |
98
|
HNF1A
|
7
|
4
|
35
|
17
|
14
|
0 |
0 |
76
|
PAX6
|
4
|
4
|
16
|
5
|
6
|
0 |
0 |
35
|
HNF1B
|
10
|
3
|
8
|
10
|
3
|
0 |
0 |
34
|
VHL
|
1
|
2
|
27
|
2
|
0 |
0 |
0 |
32
|
LOC107303340, VHL
|
5
|
3
|
13
|
4
|
0 |
0 |
0 |
24
|
MTOR
|
1
|
9
|
0 |
1
|
0 |
0 |
0 |
11
|
PIK3CA
|
0 |
10
|
0 |
0 |
0 |
0 |
0 |
10
|
COMETT, MET
|
0 |
0 |
7
|
0 |
1
|
0 |
0 |
8
|
HNF1B, LOC126862549
|
1
|
1
|
3
|
3
|
0 |
0 |
0 |
8
|
LOC106014249, PAX6
|
0 |
0 |
4
|
0 |
1
|
0 |
0 |
5
|
NRAS
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
5
|
NFE2L2
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
PTEN
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
COL4A1
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
COL4A2
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
ELOC
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
TRIM44
|
1
|
0 |
0 |
0 |
2
|
0 |
0 |
3
|
ATM, C11orf65
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
C12orf43, HNF1A
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CYP26C1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
RHEB
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
ASZ1, CAPZA2, CFTR, LOC111365177, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674476, LOC111674478, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219439, LOC113219440, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC116186911, LOC123956215, LOC126860157, LOC126860158, LOC126860159, LOC129999177, LOC129999178, LOC129999179, LOC129999180, LOC129999181, LOC129999182, LOC129999183, LOC129999184, LOC129999185, LOC129999186, LOC129999187, LOC129999188, MET, MIR6132, ST7, ST7-OT3, ST7-OT4, WNT2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ASZ1, CAPZA2, CFTR, MET, RNU2-1, ST7, ST7-OT3, ST7-OT4, WNT2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CAMK1, OGG1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CTNNB1, LOC126806659
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
CYP26A1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DICER1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DNASE1, TRAP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
EGF
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ELP4
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
ELP4, PAX6DRR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC111365177, LOC113219432, LOC126860158, MET
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC132090076, SOX5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MSH2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
OGG1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
OPA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PARP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PBRM1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PRCC
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SDHA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SDHB
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SF3B1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SF3B2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SPG7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TFE3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UBE3B
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
Fulgent Genetics, Fulgent Genetics
|
40
|
14
|
186
|
66
|
5
|
0 |
0 |
311
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
142
|
20
|
102
|
0 |
0 |
264
|
Baylor Genetics
|
46
|
33
|
78
|
0 |
0 |
0 |
0 |
157
|
Database of Curated Mutations (DoCM)
|
0 |
104
|
0 |
0 |
0 |
0 |
0 |
104
|
Mendelics
|
3
|
0 |
40
|
18
|
4
|
0 |
0 |
65
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
8
|
30
|
0 |
0 |
38
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
20
|
0 |
1
|
0 |
0 |
21
|
OMIM
|
19
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
14
|
3
|
0 |
0 |
0 |
17
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
2
|
2
|
7
|
3
|
0 |
0 |
0 |
14
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
5
|
1
|
1
|
0 |
0 |
0 |
0 |
7
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
4
|
Arora Lab, Fox Chase Cancer Center
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
3
|
0 |
0 |
4
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Michigan Center for Translational Pathology, University of Michigan
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Wessex Regional Genetics Laboratory, Salisbury District Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Cancer medicine, Gaomi People's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Myriad Genetics, Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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