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 |
16
|
110
|
168
|
41
|
65
|
1
|
2
|
390
|
Gene and significance breakdown #
Total genes and gene combinations: 31
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
MET
|
8
|
1
|
151
|
40
|
64
|
0 |
1
|
253
|
TP53
|
1
|
61
|
0 |
0 |
0 |
0 |
0 |
62
|
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
|
ATM, C11orf65
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
NKX2-1, SFTA3
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
RHEB
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
RINT1
|
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
|
BRAF
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
BRCA1, LOC126862571
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
BRCA2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CTNNB1, LOC126806659
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
KRAS
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LIG4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC111365177, LOC113219432, LOC126860158, MET
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MSH2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PALB2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PCM1
|
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 |
1
|
105
|
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 |
1
|
20
|
0 |
1
|
0 |
0 |
22
|
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
|
11
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
3DMed Clinical Laboratory Inc
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission
|
0 |
2
|
0 |
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
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical 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
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals
|
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
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
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
|
University Health Network, Princess Margaret Cancer Centre
|
1
|
0 |
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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