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 |
|
189
|
168
|
1101
|
820
|
298
|
9
|
2070
|
Condition and significance breakdown #
| Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Breast-ovarian cancer, familial, susceptibility to, 4
|
142
|
116
|
767
|
582
|
272
|
7
|
1618
|
|
Hereditary cancer-predisposing syndrome
|
84
|
75
|
710
|
460
|
13
|
0 |
1253
|
|
not provided
|
29
|
28
|
233
|
86
|
24
|
0 |
378
|
|
not specified
|
0 |
0 |
95
|
127
|
27
|
0 |
229
|
|
Hereditary breast ovarian cancer syndrome
|
17
|
13
|
52
|
21
|
1
|
0 |
97
|
|
RAD51D-related disorder
|
2
|
0 |
20
|
26
|
0 |
0 |
48
|
|
Familial ovarian cancer
|
5
|
4
|
24
|
1
|
0 |
0 |
34
|
|
Breast and/or ovarian cancer
|
6
|
4
|
13
|
8
|
2
|
0 |
33
|
|
Malignant tumor of breast
|
3
|
2
|
14
|
11
|
1
|
0 |
31
|
|
Gastric cancer
|
13
|
0 |
0 |
0 |
0 |
1
|
14
|
|
RAD51D-related cancer predisposition
|
4
|
0 |
4
|
5
|
0 |
0 |
13
|
|
Hereditary cancer
|
0 |
0 |
2
|
6
|
0 |
0 |
8
|
|
Ovarian neoplasm
|
6
|
2
|
0 |
0 |
0 |
0 |
8
|
|
Inherited breast cancer and ovarian cancer
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
|
Breast-ovarian cancer, familial, susceptibility to, 1
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
Inherited ovarian cancer (without breast cancer)
|
2
|
3
|
0 |
0 |
0 |
0 |
4
|
|
Deleterious RAD51D Gene Mutation
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Ovarian carcinoma
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Familial cancer of breast
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Hereditary site-specific ovarian cancer syndrome
|
1
|
0 |
0 |
0 |
0 |
1
|
2
|
|
Anaplastic/large cell medulloblastoma
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Breast cancer, susceptibility to
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Breast carcinoma
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Breast-ovarian cancer, familial, susceptibility to, 3
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Cancer or benign tumor
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Carcinoma of colon
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Childhood neoplasm
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Colorectal cancer
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diffuse midline glioma, H3 K27-altered
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Ependymoma
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Low grade glioma
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Lynch syndrome 1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neoplasm
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Polycystic kidney disease 2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
See cases
|
0 |
0 |
1
|
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
|
99
|
58
|
711
|
509
|
24
|
0 |
1401
|
|
Ambry Genetics
|
77
|
51
|
588
|
350
|
4
|
0 |
1070
|
|
Color Diagnostics, LLC DBA Color Health
|
26
|
24
|
283
|
225
|
10
|
0 |
568
|
|
Myriad Genetics, Inc.
|
79
|
52
|
12
|
145
|
259
|
0 |
547
|
|
GeneDx
|
18
|
18
|
183
|
105
|
34
|
0 |
358
|
|
Baylor Genetics
|
20
|
21
|
142
|
1
|
0 |
0 |
184
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
13
|
9
|
83
|
25
|
8
|
0 |
138
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
16
|
5
|
69
|
35
|
9
|
0 |
134
|
|
Sema4, Sema4
|
6
|
7
|
48
|
38
|
4
|
0 |
103
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
7
|
4
|
53
|
32
|
1
|
0 |
97
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
7
|
0 |
41
|
40
|
6
|
0 |
94
|
|
Counsyl
|
6
|
13
|
22
|
27
|
3
|
0 |
71
|
|
PreventionGenetics, part of Exact Sciences
|
3
|
0 |
24
|
31
|
6
|
0 |
64
|
|
Mendelics
|
3
|
4
|
33
|
18
|
1
|
0 |
59
|
|
CeGaT Center for Human Genetics Tuebingen
|
6
|
2
|
10
|
26
|
0 |
0 |
44
|
|
Fulgent Genetics, Fulgent Genetics
|
6
|
4
|
31
|
1
|
0 |
0 |
42
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
5
|
4
|
24
|
1
|
0 |
0 |
34
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
1
|
9
|
12
|
4
|
0 |
28
|
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
3
|
13
|
8
|
2
|
0 |
26
|
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
|
3
|
6
|
8
|
3
|
0 |
0 |
20
|
|
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge
|
6
|
7
|
5
|
2
|
0 |
0 |
20
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
0 |
8
|
10
|
0 |
18
|
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
1
|
0 |
12
|
5
|
0 |
0 |
18
|
|
GeneKor MSA
|
0 |
0 |
13
|
0 |
2
|
0 |
15
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
1
|
5
|
6
|
2
|
0 |
15
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
7
|
5
|
2
|
0 |
14
|
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
0 |
2
|
5
|
7
|
0 |
0 |
14
|
|
MGZ Medical Genetics Center
|
2
|
2
|
10
|
0 |
0 |
0 |
14
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
2
|
0 |
4
|
3
|
4
|
0 |
13
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
2
|
11
|
0 |
0 |
0 |
13
|
|
Laboratory for Genotyping Development, RIKEN
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
6
|
3
|
2
|
0 |
12
|
|
Cancer Genomics Group, Japanese Foundation For Cancer Research
|
1
|
3
|
5
|
1
|
0 |
0 |
10
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
2
|
2
|
4
|
1
|
0 |
0 |
9
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
2
|
4
|
0 |
1
|
0 |
9
|
|
Revvity Omics, Revvity
|
3
|
3
|
3
|
0 |
0 |
0 |
9
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
3
|
0 |
5
|
0 |
0 |
0 |
8
|
|
True Health Diagnostics
|
0 |
0 |
1
|
6
|
1
|
0 |
8
|
|
CZECANCA consortium
|
6
|
1
|
0 |
0 |
0 |
0 |
7
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
1
|
6
|
0 |
0 |
0 |
7
|
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
|
0 |
0 |
1
|
0 |
5
|
0 |
6
|
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
|
China-NCC-Department of Gynecologic Oncology, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
|
Department of Human Genetics, Hannover Medical School
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
2
|
1
|
0 |
0 |
4
|
|
Genesis Genomics
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
|
Institute of Immunology and Genetics Kaiserslautern
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
1
|
1
|
0 |
0 |
3
|
|
Dasa
|
1
|
0 |
0 |
2
|
0 |
0 |
3
|
|
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
King Laboratory, University of Washington
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
|
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
BRCAlab, Lund University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Human Genetics Bochum, Ruhr University Bochum
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
NHS Central & South Genomic Laboratory Hub
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Variantyx, Inc.
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Biotechnology, Institute of Science, Nirma University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Catlab - Consorci Sanitari de Terrassa
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Cancer Genetics and Family Consultants, Athens Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Medical Genetics, Istanbul Demiroglu Bilim University Medical School
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Division of Medical Genetics, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Heidelberg University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de I+D, Fundación Centro Médico de Asturias
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Medical and Scientific Branch, Hong Kong Genome Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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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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