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 |
other |
not provided |
total |
|
18
|
13
|
3067
|
2000
|
676
|
1
|
80
|
4859
|
Condition and significance breakdown #
| Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
|
Renal cell carcinoma
|
3
|
2
|
2020
|
1232
|
59
|
0 |
2
|
3315
|
|
Hereditary cancer-predisposing syndrome
|
4
|
4
|
1735
|
1224
|
62
|
0 |
0 |
2993
|
|
Papillary renal cell carcinoma type 1
|
8
|
2
|
146
|
201
|
576
|
0 |
2
|
902
|
|
not provided
|
3
|
0 |
454
|
99
|
48
|
0 |
6
|
587
|
|
not specified
|
0 |
0 |
94
|
147
|
41
|
0 |
30
|
277
|
|
Autosomal recessive nonsyndromic hearing loss 97
|
1
|
0 |
203
|
0 |
5
|
0 |
0 |
209
|
|
MET-related disorder
|
1
|
0 |
37
|
60
|
2
|
0 |
0 |
100
|
|
Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11
|
0 |
1
|
41
|
5
|
6
|
0 |
0 |
53
|
|
Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Hepatocellular carcinoma; Autosomal recessive nonsyndromic hearing loss 97
|
0 |
0 |
23
|
1
|
0 |
0 |
0 |
24
|
|
Hereditary cancer
|
0 |
0 |
2
|
15
|
0 |
0 |
0 |
17
|
|
Hereditary papillary renal cell carcinoma
|
0 |
1
|
8
|
0 |
0 |
0 |
0 |
9
|
|
Ovarian serous cystadenocarcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
9
|
|
Lung cancer
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
8
|
|
Osteofibrous dysplasia
|
2
|
0 |
6
|
0 |
0 |
0 |
0 |
8
|
|
Ovarian cancer
|
0 |
2
|
0 |
0 |
5
|
0 |
0 |
7
|
|
Malignant tumor of esophagus
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Uterine corpus endometrial carcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Gastric cancer
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
Intellectual disability
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
Melanoma
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
Arthrogryposis, distal, IIa 11
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
|
Colon adenocarcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Colorectal cancer
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
3
|
|
Embryonal rhabdomyosarcoma
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Lymphedema
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
3
|
|
Pediatric hepatocellular carcinoma
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
|
Thymoma
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Thyroid cancer, nonmedullary, 1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Uveal melanoma
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Cholangiocarcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Nonpapillary renal cell carcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Nonsyndromic genetic hearing loss
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Sarcoma
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Arthrogryposis, distal, type 1A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Autosomal Recessive Nonsyndromic Hearing Loss and Deafness
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Breast carcinoma
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Cervical cancer
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Classic Hodgkin lymphoma
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Clear cell carcinoma of kidney
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Congenital diaphragmatic hernia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Familial cancer of breast
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Glioma susceptibility 1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Hepatoblastoma
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Hepatocellular carcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Lung carcinoma
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Neuroblastoma
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Osteofibrous dysplasia; Papillary renal cell carcinoma type 1; Autosomal recessive nonsyndromic hearing loss 97; Arthrogryposis, distal, IIa 11
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Papillary renal cell carcinoma type 1; Hepatocellular carcinoma
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Squamous cell carcinoma of the head and neck
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Squamous cell lung carcinoma
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Squamous cell lung carcinoma; Breast carcinoma
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
other |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
3
|
1
|
2027
|
1235
|
58
|
0 |
0 |
3324
|
|
Ambry Genetics
|
4
|
4
|
1701
|
1218
|
55
|
0 |
0 |
2982
|
|
Myriad Genetics, Inc.
|
0 |
1
|
0 |
172
|
529
|
0 |
0 |
702
|
|
GeneDx
|
1
|
0 |
360
|
85
|
37
|
0 |
0 |
483
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
0 |
79
|
120
|
20
|
0 |
0 |
220
|
|
Baylor Genetics
|
0 |
0 |
209
|
0 |
0 |
0 |
0 |
209
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
57
|
14
|
57
|
0 |
0 |
128
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
109
|
7
|
4
|
0 |
0 |
120
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
37
|
62
|
17
|
0 |
0 |
117
|
|
Sema4, Sema4
|
0 |
0 |
44
|
39
|
10
|
0 |
0 |
93
|
|
Mendelics
|
1
|
0 |
44
|
32
|
8
|
0 |
0 |
85
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
55
|
1
|
0 |
0 |
0 |
56
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
6
|
13
|
26
|
0 |
0 |
45
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
0 |
44
|
44
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
8
|
11
|
20
|
0 |
0 |
39
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
37
|
0 |
1
|
0 |
0 |
38
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
7
|
25
|
4
|
0 |
0 |
36
|
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
17
|
1
|
15
|
0 |
0 |
34
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
13
|
7
|
10
|
0 |
0 |
32
|
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
30
|
30
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
5
|
21
|
0 |
0 |
26
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
10
|
5
|
10
|
0 |
0 |
25
|
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
19
|
0 |
5
|
0 |
0 |
24
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
5
|
4
|
11
|
0 |
0 |
20
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
5
|
14
|
0 |
0 |
19
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
17
|
0 |
0 |
0 |
0 |
17
|
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
0 |
14
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
12
|
0 |
0 |
13
|
|
Revvity Omics, Revvity
|
1
|
0 |
10
|
0 |
0 |
0 |
0 |
11
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
3
|
5
|
2
|
0 |
0 |
10
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
1
|
7
|
0 |
0 |
9
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
6
|
1
|
0 |
0 |
8
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
4
|
3
|
0 |
0 |
8
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
0 |
1
|
7
|
0 |
0 |
0 |
0 |
8
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
2
|
4
|
0 |
0 |
7
|
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
2
|
0 |
0 |
5
|
0 |
0 |
7
|
|
Athena Diagnostics
|
0 |
0 |
1
|
0 |
5
|
0 |
0 |
6
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
|
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre
|
0 |
0 |
1
|
0 |
4
|
0 |
0 |
5
|
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Vantari Genetics
|
0 |
0 |
3
|
1
|
1
|
0 |
0 |
5
|
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
0 |
0 |
1
|
1
|
1
|
0 |
0 |
3
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratorio de I+D, Fundación Centro Médico de Asturias
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Dasa
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Medical Oncology, City of Hope
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Donald Williams Parsons Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Dubai Health Genomic Medicine Center, Dubai Health
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Faculté Pluridciplinaire Nador, Université Mohamed Premier
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Genomic Center, National Cancer Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
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 |
1
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Oncology - Human Genetics Lab, University of Sao Paulo
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Pathology Department, Puerta del Mar University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
School of Biological Sciences, University of the Punjab
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
|
The Spine Surgery of The First Affiliated Hospital, Sun Yat-sen University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
The information on this website is not intended for direct
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
website, please see a health care professional.