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 |
drug response |
protective |
other |
not provided |
total |
70
|
84
|
1411
|
1173
|
147
|
60
|
1
|
1
|
33
|
2848
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
protective |
other |
not provided |
total |
EGFR-related lung cancer
|
45
|
23
|
1319
|
1055
|
57
|
0 |
0 |
0 |
2
|
2498
|
not provided
|
1
|
2
|
42
|
87
|
102
|
0 |
0 |
0 |
0 |
226
|
not specified
|
0 |
0 |
58
|
23
|
18
|
0 |
0 |
0 |
19
|
111
|
Hereditary cancer-predisposing syndrome
|
0 |
1
|
40
|
44
|
6
|
0 |
0 |
0 |
0 |
91
|
Tyrosine kinase inhibitor response
|
0 |
0 |
0 |
0 |
0 |
53
|
0 |
0 |
0 |
53
|
Non-small cell lung carcinoma
|
13
|
27
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
42
|
EGFR-related condition
|
0 |
0 |
14
|
25
|
1
|
0 |
0 |
0 |
0 |
40
|
Lung carcinoma
|
1
|
3
|
13
|
12
|
1
|
0 |
0 |
0 |
0 |
30
|
Lung cancer
|
2
|
2
|
6
|
8
|
9
|
0 |
0 |
0 |
1
|
28
|
Hereditary cancer
|
0 |
0 |
17
|
7
|
0 |
0 |
0 |
0 |
0 |
24
|
Lung adenocarcinoma
|
4
|
7
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Squamous cell carcinoma of the head and neck
|
0 |
6
|
0 |
0 |
0 |
6
|
0 |
0 |
0 |
12
|
Glioblastoma
|
0 |
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Neoplasm of brain
|
0 |
10
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
10
|
Ovarian cancer
|
0 |
4
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
10
|
Inflammatory skin and bowel disease, neonatal, 2
|
2
|
0 |
1
|
0 |
6
|
0 |
0 |
0 |
0 |
9
|
Squamous cell lung carcinoma
|
1
|
6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
8
|
Malignant tumor of urinary bladder
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic
|
0 |
0 |
0 |
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Squamous cell carcinoma
|
0 |
2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Diffuse midline glioma, H3 K27-altered
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Inborn genetic diseases
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Neoplasm of the large intestine
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
4
|
Brainstem glioma
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Endometrial carcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Head and neck neoplasm
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
See cases
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Glioblastoma multiforme, somatic
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Inflammatory skin and bowel disease, neonatal, 2; Lung cancer
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
gefitinib response - Efficacy
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Carcinoma of esophagus
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cerebral arteriovenous malformation
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cerebral palsy
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Cholangiocarcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Cowden syndrome 1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Esophageal squamous cell carcinoma
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Familial cancer of breast
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Hereditary breast ovarian cancer syndrome
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lip and oral cavity carcinoma
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Prostate neoplasm
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
erlotinib response - Efficacy
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
drug response |
protective |
other |
not provided |
total |
Invitae
|
44
|
23
|
1319
|
1055
|
57
|
0 |
0 |
0 |
0 |
2498
|
GeneDx
|
0 |
1
|
8
|
61
|
80
|
0 |
0 |
0 |
0 |
150
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
8
|
9
|
47
|
22
|
5
|
53
|
0 |
0 |
3
|
145
|
Sema4, Sema4
|
0 |
0 |
39
|
43
|
6
|
0 |
0 |
0 |
0 |
88
|
Mendelics
|
1
|
0 |
24
|
19
|
4
|
0 |
0 |
0 |
0 |
48
|
Database of Curated Mutations (DoCM)
|
6
|
44
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
48
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
14
|
25
|
8
|
0 |
0 |
0 |
0 |
47
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
5
|
25
|
5
|
0 |
0 |
0 |
0 |
37
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
11
|
0 |
10
|
0 |
0 |
0 |
0 |
21
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
19
|
19
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
8
|
9
|
0 |
0 |
0 |
0 |
17
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
7
|
1
|
5
|
0 |
0 |
0 |
0 |
13
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
13
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
4
|
0 |
0 |
6
|
0 |
0 |
0 |
0 |
10
|
Baylor Genetics
|
1
|
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
5
|
1
|
0 |
0 |
7
|
Ambry Genetics
|
0 |
1
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
7
|
Revvity Omics, Revvity
|
0 |
0 |
7
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research
|
2
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
5
|
0 |
0 |
0 |
0 |
6
|
Genetics, Bhagwan Mahavir Medical Research Centre
|
0 |
0 |
0 |
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Laboratory of Urology, Hospital Clinic de Barcelona
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Laboratory of Translational Genomics, National Cancer Institute
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
1
|
1
|
0 |
0 |
0 |
0 |
4
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
3DMed Clinical Laboratory Inc
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
PharmGKB
|
0 |
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Sciences, Banaras Hindu University
|
0 |
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, University of Rochester Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Cancer Genomic Medicine Translational Research Lab, Cleveland Clinic Genomic Medicine Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics, Rajiv Gandhi Cancer Institute & Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neurogenetics Research Program, University of Adelaide
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Core Molecular Diagnostic Lab, McGill University Health Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Myriad Genetics, Inc.
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Faculté Pluridciplinaire Nador, Université Mohamed Premier
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Oncology Research Center, Barretos Cancer Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Thoracic Oncology Program, Dana-Farber Cancer Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Department of Laboratory Medicine, Maanshan College
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
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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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