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 |
128
|
115
|
2519
|
1339
|
669
|
1
|
3
|
4307
|
Gene and significance breakdown #
Total genes and gene combinations: 48
MET
|
8
|
3
|
1947
|
1254
|
599
|
0 |
3
|
3356
|
TP53
|
57
|
60
|
86
|
5
|
2
|
0 |
0 |
203
|
FLCN
|
13
|
8
|
135
|
28
|
2
|
0 |
0 |
186
|
HNF1A
|
14
|
11
|
95
|
17
|
14
|
0 |
0 |
150
|
ELP4, PAX6
|
2
|
1
|
57
|
2
|
37
|
0 |
0 |
98
|
HNF1B
|
11
|
17
|
49
|
13
|
3
|
0 |
0 |
93
|
VHL
|
1
|
2
|
49
|
3
|
0 |
0 |
0 |
55
|
LOC107303340, VHL
|
5
|
3
|
26
|
4
|
0 |
0 |
0 |
38
|
PAX6
|
4
|
5
|
16
|
5
|
6
|
0 |
0 |
36
|
HNF1B, LOC126862549
|
1
|
2
|
11
|
3
|
0 |
0 |
0 |
17
|
C12orf43, HNF1A
|
0 |
0 |
13
|
0 |
0 |
0 |
0 |
13
|
COMETT, MET
|
0 |
0 |
7
|
0 |
2
|
0 |
0 |
9
|
LOC106014249, PAX6
|
0 |
0 |
4
|
0 |
1
|
0 |
0 |
5
|
COL4A1
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
COL4A2
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
TRIM44
|
1
|
0 |
0 |
0 |
2
|
0 |
0 |
3
|
ASZ1, CAPZA2, CFTR, MET, RNU2-1, ST7, ST7-OT3, ST7-OT4, WNT2
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
ATM, C11orf65
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CAV1, MET
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CYP26C1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
MTOR
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
2
|
SDHB
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
TFE3
|
1
|
0 |
1
|
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
|
BAP1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CAMK1, OGG1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CHEK2
|
0 |
0 |
1
|
0 |
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
|
LYST
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MSH2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MYB, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYBL1, NFIB
|
1
|
0 |
0 |
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
|
SPG7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UBE3B
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Labcorp Genetics (formerly Invitae), Labcorp
|
3
|
1
|
1868
|
1162
|
59
|
0 |
0 |
3093
|
Myriad Genetics, Inc.
|
0 |
1
|
0 |
172
|
529
|
0 |
0 |
702
|
Fulgent Genetics, Fulgent Genetics
|
52
|
51
|
451
|
72
|
5
|
0 |
0 |
631
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
142
|
20
|
102
|
0 |
0 |
264
|
Baylor Genetics
|
46
|
33
|
78
|
0 |
0 |
0 |
0 |
157
|
Mendelics
|
3
|
0 |
38
|
18
|
7
|
0 |
0 |
66
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
8
|
37
|
0 |
0 |
45
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
30
|
0 |
1
|
0 |
0 |
31
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
0 |
0 |
21
|
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University
|
0 |
19
|
0 |
0 |
0 |
0 |
0 |
19
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
2
|
2
|
7
|
3
|
0 |
0 |
0 |
14
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
5
|
1
|
1
|
0 |
1
|
0 |
0 |
8
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
5
|
1
|
1
|
0 |
0 |
0 |
0 |
7
|
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
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genome Sciences Centre, British Columbia Cancer Agency
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
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
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
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
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
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
|
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
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cancer medicine, Gaomi People's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
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
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
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
professional.