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 |
|
557
|
273
|
1471
|
1059
|
393
|
28
|
3129
|
Condition and significance breakdown #
| Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Multiple endocrine neoplasia, type 1
|
415
|
156
|
1063
|
871
|
353
|
7
|
2431
|
|
Hereditary cancer-predisposing syndrome
|
241
|
78
|
779
|
545
|
30
|
0 |
1651
|
|
not provided
|
139
|
74
|
147
|
81
|
46
|
1
|
459
|
|
not specified
|
6
|
2
|
47
|
53
|
33
|
4
|
124
|
|
MEN1-related disorder
|
2
|
1
|
22
|
39
|
3
|
0 |
67
|
|
Hyperparathyroidism
|
0 |
0 |
35
|
8
|
4
|
0 |
47
|
|
Ovarian serous cystadenocarcinoma
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
|
Neuroendocrine tumor of pancreas
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
Hereditary cancer
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
|
Neoplasm
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Pituitary adenoma 5, multiple types
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
|
Somatotroph adenoma
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Adrenocortical carcinoma, hereditary
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Angiofibroma, somatic
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Cholangiocarcinoma
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Hereditary breast ovarian cancer syndrome
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Malignant tumor of esophagus
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Multiple endocrine neoplasia
|
0 |
0 |
0 |
0 |
1
|
1
|
2
|
|
Primary hyperparathyroidism
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Thyroid cancer, nonmedullary, 1
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Uterine carcinosarcoma
|
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
|
|
Adrenocortical adenoma
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Colon adenocarcinoma
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Diffuse midline glioma, H3 K27-altered
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Ependymoma
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Familial isolated hyperparathyroidism
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Familial prostate cancer
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Gastric cancer
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Gastrointestinal stromal tumor; Parathyroid gland adenoma; Thyroid adenoma; Chronic diarrhea; Diabetes mellitus; Hypertensive disorder
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Hepatocellular carcinoma
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Hyperparathyroidism 1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Lipoma, somatic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Lung cancer
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Lung carcinoid tumor
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Malignant tumor of urinary bladder
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Melanoma
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Multiple endocrine neoplasia, type 1; Gigantism
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Neoplasm of the endocrine system
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Neuroblastoma
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Nonpapillary renal cell carcinoma
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Ovarian cancer
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Parathyroid adenoma, somatic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pituitary dependent hypercortisolism
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid gland adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal circulating calcium concentration
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Thymoma
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
383
|
76
|
850
|
811
|
58
|
0 |
2178
|
|
Ambry Genetics
|
240
|
77
|
764
|
539
|
16
|
0 |
1636
|
|
Myriad Genetics, Inc.
|
26
|
10
|
2
|
87
|
305
|
0 |
430
|
|
All of Us Research Program, National Institutes of Health
|
7
|
2
|
172
|
101
|
2
|
0 |
284
|
|
GeneDx
|
81
|
39
|
84
|
41
|
39
|
0 |
284
|
|
Color Diagnostics, LLC DBA Color Health
|
3
|
2
|
93
|
106
|
11
|
0 |
215
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
45
|
27
|
23
|
17
|
21
|
1
|
134
|
|
Baylor Genetics
|
7
|
7
|
115
|
0 |
0 |
0 |
129
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
29
|
11
|
39
|
8
|
4
|
0 |
91
|
|
PreventionGenetics, part of Exact Sciences
|
3
|
1
|
26
|
49
|
11
|
0 |
90
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
31
|
13
|
10
|
13
|
13
|
0 |
80
|
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
4
|
8
|
47
|
4
|
0 |
65
|
|
Illumina Laboratory Services, Illumina
|
0 |
2
|
34
|
10
|
20
|
0 |
47
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
7
|
8
|
11
|
14
|
2
|
0 |
42
|
|
Sema4, Sema4
|
0 |
1
|
12
|
16
|
13
|
0 |
42
|
|
OMIM
|
32
|
0 |
0 |
0 |
0 |
0 |
32
|
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
25
|
4
|
1
|
0 |
0 |
0 |
30
|
|
Mendelics
|
3
|
2
|
11
|
8
|
4
|
0 |
28
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
2
|
5
|
19
|
0 |
26
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
4
|
5
|
6
|
3
|
3
|
0 |
21
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
2
|
15
|
1
|
2
|
0 |
20
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
0 |
6
|
13
|
0 |
20
|
|
Counsyl
|
0 |
2
|
6
|
9
|
2
|
0 |
19
|
|
Athena Diagnostics
|
11
|
1
|
1
|
1
|
4
|
0 |
18
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
18
|
18
|
|
Eurofins Ntd Llc (ga)
|
6
|
0 |
4
|
2
|
6
|
0 |
18
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
5
|
2
|
3
|
5
|
2
|
0 |
17
|
|
Genetic Services Laboratory, University of Chicago
|
2
|
0 |
6
|
5
|
2
|
0 |
15
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
4
|
1
|
6
|
0 |
4
|
0 |
15
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
3
|
8
|
3
|
0 |
0 |
0 |
14
|
|
GeneKor MSA
|
0 |
1
|
8
|
0 |
4
|
0 |
13
|
|
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)
|
5
|
4
|
0 |
1
|
3
|
0 |
13
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
3
|
0 |
1
|
3
|
4
|
0 |
11
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
3
|
0 |
4
|
3
|
0 |
10
|
|
Revvity Omics, Revvity
|
1
|
2
|
7
|
0 |
0 |
0 |
10
|
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
4
|
3
|
1
|
1
|
0 |
0 |
9
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
7
|
2
|
0 |
0 |
9
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
4
|
2
|
2
|
0 |
0 |
0 |
8
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
4
|
3
|
0 |
8
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
|
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine
|
3
|
4
|
0 |
0 |
0 |
0 |
7
|
|
MGZ Medical Genetics Center
|
1
|
4
|
2
|
0 |
0 |
0 |
7
|
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
4
|
0 |
2
|
0 |
6
|
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
|
Cancer Genetics and Diagnostic Laboratory, The Kolling Institute
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
3
|
1
|
0 |
4
|
|
Genome Sciences Centre, British Columbia Cancer Agency
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
2
|
1
|
1
|
0 |
0 |
0 |
4
|
|
Aziz Sancar Institute of Experimental Medicine, Istanbul University
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Medical and Scientific Branch, Hong Kong Genome Institute
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Dasa
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Endocrine Unit 2, University Hospital of Pisa
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
MVZ Martinsried, Medicover Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center for Human Genetics, University of Leuven
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center of Human Genetics, Hôpital Erasme
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre of Medical Genetics, University Hospital Muenster
|
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 |
1
|
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Human Genetics, Hannover Medical School
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genetics and Personalized Medicine Clinic, Tartu University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Human Genetics Unit, University Of Colombo
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Hospital of China Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
McDonnell Genome Institute, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara
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0 |
1
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0 |
0 |
0 |
0 |
1
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Richard Lifton Laboratory, Yale University School of Medicine
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0 |
0 |
1
|
0 |
0 |
0 |
1
|
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Vantari Genetics
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0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
deCODE genetics, Amgen
|
1
|
0 |
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
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If you have questions about the information contained on this
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