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 |
risk factor |
other |
not provided |
total |
317
|
303
|
3461
|
2005
|
303
|
3
|
7
|
8
|
6278
|
Gene and significance breakdown #
Total genes and gene combinations: 106
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
other |
not provided |
total |
MET
|
8
|
6
|
1744
|
1054
|
95
|
0 |
0 |
3
|
2852
|
GPC3
|
43
|
8
|
428
|
297
|
69
|
0 |
0 |
0 |
837
|
WT1
|
47
|
14
|
393
|
336
|
39
|
0 |
0 |
4
|
805
|
LOC107982234, WT1
|
19
|
4
|
444
|
211
|
12
|
0 |
0 |
0 |
674
|
TP53
|
55
|
136
|
76
|
5
|
2
|
0 |
0 |
0 |
259
|
BRCA2
|
81
|
14
|
70
|
26
|
17
|
0 |
0 |
1
|
209
|
FLCN
|
11
|
4
|
70
|
26
|
2
|
0 |
0 |
0 |
113
|
ELP4, PAX6
|
2
|
0 |
57
|
2
|
37
|
0 |
0 |
0 |
98
|
HNF1A
|
7
|
4
|
35
|
17
|
14
|
0 |
0 |
0 |
76
|
PAX6
|
4
|
4
|
16
|
5
|
6
|
0 |
0 |
0 |
35
|
HNF1B
|
10
|
3
|
8
|
10
|
3
|
0 |
0 |
0 |
34
|
VHL
|
1
|
2
|
27
|
2
|
0 |
0 |
0 |
0 |
32
|
LOC107303340, VHL
|
5
|
3
|
13
|
4
|
0 |
0 |
0 |
0 |
24
|
PIK3CA
|
0 |
20
|
1
|
0 |
0 |
0 |
0 |
0 |
21
|
MTOR
|
1
|
12
|
0 |
1
|
0 |
0 |
0 |
0 |
14
|
REST
|
0 |
0 |
9
|
2
|
0 |
3
|
0 |
0 |
14
|
CTNNB1, LOC126806658
|
0 |
11
|
0 |
0 |
0 |
0 |
2
|
0 |
12
|
COMETT, MET
|
0 |
0 |
7
|
0 |
2
|
0 |
0 |
0 |
9
|
HNF1B, LOC126862549
|
1
|
1
|
3
|
3
|
0 |
0 |
0 |
0 |
8
|
TRIM28
|
1
|
0 |
6
|
0 |
0 |
0 |
0 |
0 |
7
|
FBXW7
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
IDH1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
LOC106014249, PAX6
|
0 |
0 |
4
|
0 |
1
|
0 |
0 |
0 |
5
|
NRAS
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
BRAF
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
CREBBP
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
NFE2L2
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
PTEN
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
SF3B1
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
BAP1
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
BCOR
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
COL4A1
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
COL4A2
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
ELOC
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GNAS
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
HRAS, LRRC56
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
TRIM44
|
1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
3
|
ASZ1, CAPZA2, CFTR, MET, RNU2-1, ST7, ST7-OT3, ST7-OT4, WNT2
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
ATM, C11orf65
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ATRX
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
C12orf43, HNF1A
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CAV1, MET
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
CHEK2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
CTNNB1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
0 |
2
|
CYP26C1
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
H19, H19-ICR, MRPL23
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC106707172, LOC107982234, LOC130005479, WT1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
LOC130065239, TRIM28
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
MED12
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
0 |
2
|
NOTCH1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
POU6F2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
RHEB
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
SDHB
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
ALK
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARID1B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARID2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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 |
0 |
1
|
ATM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CAMK1, OGG1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CCDC160, GPC3, HPRT1, MIR106A, MIR19B2, PHF6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CDKN2C, FAF1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CTNNB1, LOC126806659
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
CYP26A1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DICER1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DIS3L2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNASE1, TRAP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EGF
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ELP4
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ELP4, PAX6DRR
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FGFR2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FUS, TFCP2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FZD6
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GPC4
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
H3-3A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IGF2, INS-IGF2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
INSL6, JAK2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
JAK3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KMT2A
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KRAS
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC111365177, LOC113219432, LOC126860158, MET
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC132090076, SOX5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MECOM
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MLH1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MSH2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MSH6
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MYB, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
MYBL1, NFIB
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
OGG1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
OPA1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PARP1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PBRM1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PRCC
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RAD52
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SDHA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SF3B2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SMAD4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SMARCA2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SMARCA4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SMARCB1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SPG7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
STAT3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
STK11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
TET2
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
TFE3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UBE3B
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
other |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
102
|
18
|
2823
|
1828
|
158
|
0 |
0 |
0 |
4929
|
Fulgent Genetics, Fulgent Genetics
|
111
|
19
|
303
|
122
|
23
|
0 |
0 |
0 |
578
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
214
|
34
|
127
|
0 |
0 |
0 |
375
|
All of Us Research Program, National Institutes of Health
|
0 |
2
|
139
|
84
|
4
|
0 |
0 |
0 |
229
|
Database of Curated Mutations (DoCM)
|
0 |
191
|
0 |
0 |
0 |
0 |
0 |
0 |
191
|
Baylor Genetics
|
50
|
35
|
82
|
0 |
0 |
0 |
0 |
0 |
167
|
Mendelics
|
3
|
0 |
51
|
18
|
8
|
0 |
0 |
0 |
80
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
5
|
1
|
47
|
0 |
1
|
0 |
0 |
0 |
54
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
11
|
40
|
0 |
0 |
0 |
51
|
OMIM
|
32
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
35
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
23
|
11
|
1
|
0 |
0 |
0 |
0 |
0 |
35
|
Genome Sciences Centre, British Columbia Cancer Agency
|
3
|
6
|
21
|
0 |
0 |
0 |
0 |
0 |
30
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
21
|
0 |
0 |
0 |
22
|
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University
|
0 |
19
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
2
|
2
|
7
|
3
|
0 |
0 |
0 |
0 |
14
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
2
|
2
|
0 |
0 |
0 |
0 |
7
|
0 |
11
|
Color Diagnostics, LLC DBA Color Health
|
0 |
0 |
0 |
2
|
8
|
0 |
0 |
0 |
10
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
3
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Arora Lab, Fox Chase Cancer Center
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Michigan Center for Translational Pathology, University of Michigan
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Wessex Regional Genetics Laboratory, Salisbury District Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
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0 |
1
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0 |
0 |
0 |
0 |
0 |
0 |
1
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Institute of Human Genetics, University Hospital of Duesseldorf
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0 |
1
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0 |
0 |
0 |
0 |
0 |
0 |
1
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Institute of Human Genetics, University of Leipzig Medical Center
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0 |
0 |
0 |
1
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0 |
0 |
0 |
0 |
1
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GenomeConnect, ClinGen
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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1
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Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
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0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
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Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
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0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
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Génétique des Maladies du Développement, Hospices Civils de Lyon
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0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
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Johns Hopkins Genomics, Johns Hopkins University
|
1
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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Cancer medicine, Gaomi People's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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Myriad Genetics, Inc.
|
0 |
1
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0 |
0 |
0 |
0 |
0 |
0 |
1
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Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
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0 |
1
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0 |
0 |
0 |
0 |
0 |
0 |
1
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Pediatric Oncology, Johns Hopkins University
|
1
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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NPCF Sunshine Lab, H. Lee Moffitt Cancer Center and Research Institute
|
1
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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3billion
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0 |
0 |
0 |
1
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0 |
0 |
0 |
0 |
1
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Suma Genomics
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1
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0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
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Neuberg Centre For Genomic Medicine, NCGM
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0 |
0 |
1
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0 |
0 |
0 |
0 |
0 |
1
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Laan Lab, Human Genetics Research Group, University of Tartu
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1
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0 |
0 |
0 |
0 |
0 |
0 |
1
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Department of Human Genetics, Hannover Medical School
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1
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0 |
0 |
0 |
0 |
0 |
1
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
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0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
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Institute of Immunology and Genetics Kaiserslautern
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
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MVZ Medizinische Genetik Mainz
|
1
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0 |
0 |
0 |
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0 |
0 |
1
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