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 |
|
184
|
59
|
2629
|
1635
|
778
|
31
|
4320
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
104
|
12
|
1926
|
1141
|
46
|
0 |
3229
|
|
Ambry Genetics
|
80
|
9
|
1511
|
961
|
55
|
0 |
2616
|
|
Myriad Genetics, Inc.
|
47
|
5
|
0 |
145
|
652
|
0 |
849
|
|
GeneDx
|
1
|
1
|
391
|
182
|
74
|
0 |
649
|
|
Baylor Genetics
|
1
|
16
|
286
|
0 |
0 |
0 |
303
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
1
|
0 |
158
|
46
|
44
|
0 |
249
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
1
|
96
|
101
|
12
|
0 |
210
|
|
Sema4, Sema4
|
0 |
2
|
103
|
72
|
28
|
0 |
205
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
54
|
11
|
49
|
0 |
114
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
37
|
59
|
16
|
0 |
114
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
15
|
25
|
28
|
0 |
69
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
49
|
9
|
3
|
0 |
61
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
7
|
43
|
3
|
0 |
54
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
6
|
16
|
31
|
0 |
53
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
16
|
14
|
13
|
0 |
43
|
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
3
|
4
|
35
|
0 |
42
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
9
|
15
|
15
|
0 |
39
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
31
|
0 |
0 |
0 |
31
|
|
Clinical Genetics, Academic Medical Center
|
1
|
0 |
1
|
16
|
12
|
0 |
30
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
6
|
7
|
9
|
0 |
22
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
18
|
18
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
8
|
6
|
0 |
14
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
10
|
4
|
0 |
14
|
|
Molecular Pathology, Peter Maccallum Cancer Centre
|
2
|
1
|
9
|
2
|
0 |
0 |
14
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
12
|
0 |
0 |
12
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
1
|
7
|
4
|
0 |
12
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
2
|
8
|
0 |
11
|
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
5
|
5
|
0 |
0 |
0 |
0 |
10
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
6
|
3
|
0 |
10
|
|
GeneKor MSA
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
|
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
|
0 |
3
|
0 |
0 |
6
|
0 |
9
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
|
Revvity Omics, Revvity
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
6
|
0 |
0 |
6
|
|
Mendelics
|
0 |
0 |
2
|
3
|
1
|
0 |
6
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
|
Molecular Diagnostics Laboratory, Catalan Institute of Oncology
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
|
CSER _CC_NCGL, University of Washington
|
1
|
0 |
1
|
2
|
0 |
0 |
4
|
|
Dasa
|
0 |
0 |
1
|
2
|
1
|
0 |
4
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Vantari Genetics
|
0 |
0 |
1
|
2
|
1
|
0 |
4
|
|
Department of Prosthodontics, Peking University School and Hospital of Stomatology
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
|
Laboratorio de I+D, Fundación Centro Médico de Asturias
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
|
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Center of Medical Genetics and Primary Health Care
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Molecular Oncology Laboratory, Hospital Clínico San Carlos
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
University of Washington Department of Laboratory Medicine, University of Washington
|
1
|
0 |
0 |
1
|
0 |
0 |
2
|
|
Variantyx, Inc.
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Helix
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Human Genomics Unit, Institute for molecular medicine Finland (FIMM)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Klinisk genetik och genomik Research, Gothenburg University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
MVZ Medizinische Genetik Mainz
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Genetics of Human Eye Development, Oxford Brookes University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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