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 |
12
|
105
|
165
|
41
|
65
|
1
|
1
|
378
|
Gene and significance breakdown #
Total genes and gene combinations: 22
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
|
0 |
61
|
0 |
0 |
0 |
0 |
0 |
61
|
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
|
LOC107303340, VHL
|
2
|
3
|
0 |
0 |
0 |
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
|
ELOC
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
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
|
ATM, C11orf65
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CTNNB1, LOC126806659
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
LOC111365177, LOC113219432, LOC126860158, MET
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MSH2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PRCC
|
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
|
VHL
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
67
|
15
|
58
|
0 |
0 |
140
|
Database of Curated Mutations (DoCM)
|
0 |
104
|
0 |
0 |
0 |
0 |
0 |
104
|
Mendelics
|
2
|
0 |
40
|
18
|
4
|
0 |
0 |
64
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
23
|
1
|
0 |
0 |
0 |
24
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
20
|
0 |
1
|
0 |
0 |
21
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
5
|
14
|
0 |
0 |
19
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
14
|
3
|
0 |
0 |
0 |
17
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
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
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
1
|
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
|
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
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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
|
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health behavior solely on the basis of information contained on
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