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 |
not provided |
total |
1042
|
512
|
1976
|
1184
|
125
|
20
|
4591
|
Gene and significance breakdown #
Total genes and gene combinations: 70
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
CDH1
|
437
|
134
|
1865
|
1141
|
117
|
18
|
3461
|
TP53
|
14
|
158
|
0 |
0 |
0 |
0 |
165
|
BRCA2
|
90
|
0 |
0 |
0 |
0 |
0 |
90
|
APC
|
23
|
3
|
44
|
11
|
2
|
2
|
85
|
CTNNA1
|
51
|
7
|
0 |
2
|
0 |
0 |
60
|
ATM
|
55
|
0 |
0 |
0 |
0 |
0 |
55
|
MUTYH
|
29
|
4
|
19
|
3
|
1
|
0 |
55
|
FGFR2
|
5
|
5
|
25
|
16
|
1
|
0 |
51
|
PIK3CA
|
4
|
43
|
1
|
0 |
0 |
0 |
45
|
BRCA1
|
31
|
0 |
0 |
0 |
0 |
0 |
31
|
MSH6
|
29
|
0 |
0 |
0 |
0 |
0 |
29
|
ATM, C11orf65
|
28
|
0 |
0 |
0 |
0 |
0 |
28
|
BRIP1
|
26
|
0 |
0 |
0 |
0 |
0 |
26
|
PALB2
|
26
|
0 |
0 |
0 |
0 |
0 |
26
|
CTNNB1, LOC126806658
|
0 |
21
|
0 |
0 |
0 |
0 |
21
|
NF1
|
20
|
0 |
0 |
0 |
0 |
0 |
20
|
BARD1
|
19
|
0 |
0 |
0 |
0 |
0 |
19
|
CHEK2
|
19
|
0 |
0 |
0 |
0 |
0 |
19
|
KRAS
|
4
|
2
|
5
|
6
|
0 |
0 |
16
|
ERBB2
|
1
|
14
|
0 |
0 |
0 |
0 |
14
|
FBXW7
|
0 |
14
|
0 |
0 |
0 |
0 |
14
|
MSH2
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
NRAS
|
0 |
14
|
0 |
0 |
0 |
0 |
14
|
PTEN
|
9
|
5
|
0 |
0 |
0 |
0 |
14
|
EPCAM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
HRAS, LRRC56
|
0 |
13
|
0 |
0 |
0 |
0 |
13
|
NBN
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
RAD51D, RAD51L3-RFFL
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
CDH1, LOC130059290
|
2
|
1
|
5
|
3
|
4
|
0 |
12
|
MLH1
|
11
|
1
|
0 |
0 |
0 |
0 |
12
|
RAD51C
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
SMAD4
|
2
|
9
|
0 |
0 |
0 |
0 |
11
|
PMS2
|
10
|
0 |
0 |
0 |
0 |
0 |
10
|
BRCA1, LOC126862571
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
CDKN2A
|
1
|
7
|
0 |
0 |
0 |
0 |
8
|
RHOA
|
0 |
8
|
0 |
0 |
0 |
0 |
8
|
HOXB13
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
B2M
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
CASP10
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
CDH1, LOC112486201, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128822933, LOC128849170, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
ERBB3
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
IL1RN
|
0 |
0 |
3
|
2
|
0 |
0 |
5
|
MAP2K1
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
CREBBP
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
MUTYH, TOE1
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
APC, LOC129994371
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
BRAF
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
FGFR1
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
GNAS
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
PPP2R1A
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
ACVR1
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CDH1, CDH3
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
CNOT9
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
KIT
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MAP2K2
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MED12
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MTOR
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
RAF1
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
AKT1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CDH1, LOC128772407, LOC128849170
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CDK4
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDKN2A, LOC130001603
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCI
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IRF1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
KLF6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC126860438, NBN
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130062899, STK11
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
POLE
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PTPN11
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
STK11
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
265
|
52
|
1622
|
1095
|
69
|
0 |
3103
|
Laboratory for Genotyping Development, RIKEN
|
518
|
0 |
0 |
0 |
0 |
0 |
518
|
Myriad Genetics, Inc.
|
262
|
78
|
87
|
17
|
19
|
0 |
463
|
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto
|
84
|
12
|
227
|
35
|
33
|
0 |
391
|
Database of Curated Mutations (DoCM)
|
0 |
360
|
0 |
0 |
0 |
0 |
360
|
Fulgent Genetics, Fulgent Genetics
|
27
|
5
|
109
|
47
|
6
|
0 |
194
|
Counsyl
|
4
|
8
|
91
|
41
|
2
|
0 |
146
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
23
|
41
|
0 |
110
|
Mendelics
|
3
|
2
|
26
|
19
|
15
|
0 |
65
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
13
|
3
|
3
|
0 |
19
|
OMIM
|
18
|
0 |
0 |
0 |
0 |
0 |
18
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
5
|
0 |
0 |
0 |
0 |
17
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
13
|
13
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
1
|
0 |
5
|
5
|
0 |
0 |
11
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
4
|
0 |
5
|
0 |
0 |
0 |
9
|
MGZ Medical Genetics Center
|
3
|
1
|
4
|
0 |
0 |
0 |
8
|
Pathway Genomics
|
4
|
0 |
2
|
1
|
1
|
0 |
8
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
2
|
1
|
0 |
0 |
5
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
GenomeConnect - No Stomach For Cancer
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
CSER _CC_NCGL, University of Washington
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
King Laboratory, University of Washington
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratório de Genética Humana e Médica, Universidade Federal do Pará
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility, Centro di Riferimento Oncologico
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Solve-RD Consortium
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Leiden Open Variation Database
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3DMed Clinical Laboratory Inc
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ClinGen CDH1 Variant Curation Expert Panel
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Division of Medical Genetics, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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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
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