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 |
risk factor |
not provided |
total |
153
|
46
|
1241
|
827
|
198
|
1
|
6
|
2276
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
41
|
14
|
827
|
614
|
41
|
0 |
0 |
1537
|
GeneDx
|
9
|
13
|
199
|
239
|
154
|
0 |
0 |
614
|
Ambry Genetics
|
1
|
0 |
121
|
90
|
6
|
0 |
0 |
218
|
Illumina Laboratory Services, Illumina
|
2
|
1
|
165
|
16
|
28
|
0 |
0 |
212
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
66
|
5
|
12
|
0 |
0 |
84
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
39
|
8
|
24
|
0 |
0 |
0 |
0 |
71
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
42
|
22
|
2
|
0 |
0 |
66
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
2
|
22
|
38
|
1
|
0 |
0 |
63
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
12
|
33
|
10
|
0 |
0 |
56
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
22
|
5
|
0 |
0 |
0 |
27
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
19
|
0 |
2
|
0 |
0 |
0 |
0 |
21
|
Athena Diagnostics Inc
|
0 |
0 |
4
|
4
|
11
|
0 |
0 |
19
|
ISCA site 1
|
15
|
1
|
3
|
0 |
0 |
0 |
0 |
19
|
Revvity Omics, Revvity
|
1
|
3
|
13
|
0 |
0 |
0 |
0 |
17
|
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center
|
0 |
1
|
2
|
0 |
11
|
0 |
0 |
14
|
ISCA Site 6
|
4
|
0 |
0 |
4
|
2
|
0 |
0 |
10
|
Baylor Genetics
|
0 |
0 |
9
|
0 |
0 |
0 |
0 |
9
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
1
|
7
|
0 |
0 |
0 |
9
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
7
|
1
|
0 |
0 |
0 |
8
|
ISCA site 4
|
0 |
0 |
1
|
6
|
0 |
0 |
0 |
7
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
2
|
5
|
0 |
0 |
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
0 |
4
|
0 |
0 |
0 |
0 |
6
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
1
|
4
|
0 |
0 |
0 |
6
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
1
|
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
3
|
1
|
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
2
|
0 |
1
|
1
|
0 |
0 |
0 |
4
|
New York Genome Center
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
4
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
2
|
0 |
0 |
3
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
3
|
Medical Genetics Laboratory, CHRU Nancy
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Cytogenetics, Genetics Associates, Inc.
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Bionano Laboratories
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Psychiatry, Nagoya University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Molecular and Cell Biology, University of Tartu
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Cytogenetics Laboratory, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Strasbourg University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Geschwind lab, University of California Los Angeles
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dash Lab, University Health Network
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics Department, Polish Mother's Memorial Hospital Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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