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 |
|
28
|
22
|
2323
|
1067
|
97
|
20
|
3348
|
Condition and significance breakdown #
| Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
not specified
|
0 |
0 |
1938
|
943
|
41
|
0 |
2880
|
|
Colorectal cancer, hereditary nonpolyposis, type 7
|
23
|
8
|
936
|
363
|
54
|
0 |
1323
|
|
Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer
|
2
|
0 |
124
|
22
|
10
|
0 |
158
|
|
not provided
|
1
|
7
|
34
|
35
|
48
|
0 |
107
|
|
MLH3-related disorder
|
0 |
1
|
47
|
42
|
9
|
0 |
99
|
|
Endometrial carcinoma
|
0 |
2
|
7
|
3
|
22
|
0 |
34
|
|
Ovarian cancer
|
0 |
4
|
0 |
0 |
6
|
0 |
10
|
|
Colorectal cancer
|
2
|
0 |
4
|
0 |
1
|
0 |
7
|
|
Gastric cancer
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Ovarian serous cystadenocarcinoma
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Thyroid cancer, nonmedullary, 1
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
Colorectal cancer, non-polyposis
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
Lynch syndrome 1
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
Sarcoma
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Thymoma
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Cervical cancer
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Clear cell carcinoma of kidney
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Hereditary cancer
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Hereditary cancer-predisposing syndrome
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Lung cancer
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Neoplasm
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Nonpapillary renal cell carcinoma
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Uterine corpus endometrial carcinoma
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Acute myeloid leukemia
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Astrocytoma IDH-mutant
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Breast carcinoma
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Carcinoma of colon
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Colon adenocarcinoma
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Endometrial cancer
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Familial cancer of breast
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Hereditary nonpolyposis colorectal neoplasms
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Lynch syndrome
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Malignant tumor of breast
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Malignant tumor of esophagus
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Melanoma
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Papillary renal cell carcinoma type 1
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Premature ovarian failure
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Ambry Genetics
|
0 |
0 |
1892
|
870
|
25
|
0 |
2787
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
861
|
325
|
46
|
0 |
1232
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
6
|
110
|
96
|
25
|
0 |
237
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
85
|
35
|
15
|
0 |
135
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
3
|
0 |
67
|
36
|
18
|
0 |
124
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
47
|
42
|
12
|
0 |
101
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
78
|
2
|
0 |
0 |
80
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
2
|
18
|
19
|
9
|
0 |
48
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
4
|
19
|
18
|
0 |
41
|
|
GeneDx
|
0 |
0 |
2
|
0 |
31
|
0 |
33
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
8
|
9
|
14
|
0 |
31
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
4
|
4
|
22
|
0 |
27
|
|
Myriad Genetics, Inc.
|
22
|
2
|
0 |
0 |
0 |
0 |
24
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
19
|
19
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
12
|
0 |
12
|
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
4
|
0 |
0 |
6
|
0 |
10
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
5
|
4
|
0 |
9
|
|
OMIM
|
3
|
0 |
4
|
0 |
0 |
0 |
7
|
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
0 |
3
|
2
|
0 |
6
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Dasa
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
1
|
0 |
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Mendelics
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Center for Individualized Medicine, Mayo Clinic
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center of Medical Genetics and Primary Health Care
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical Medical College of Fujian Medical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genomic Center, National Cancer Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Medical and Scientific Branch, Hong Kong Genome Institute
|
0 |
1
|
0 |
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. The submitted information has not been verified.
If you have questions about the information contained on this
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