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 |
association |
confers sensitivity |
risk factor |
uncertain risk allele |
not provided |
total |
20
|
6
|
581
|
363
|
106
|
3
|
1
|
3
|
1
|
101
|
937
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
confers sensitivity |
risk factor |
uncertain risk allele |
not provided |
total |
Invitae
|
9
|
0 |
434
|
300
|
55
|
3
|
0 |
0 |
0 |
0 |
801
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
1
|
63
|
42
|
12
|
0 |
0 |
0 |
0 |
0 |
118
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
60
|
45
|
60
|
0 |
0 |
0 |
0 |
0 |
107
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
31
|
34
|
15
|
0 |
0 |
0 |
0 |
0 |
81
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
77
|
77
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
16
|
28
|
17
|
0 |
0 |
0 |
0 |
0 |
64
|
GeneDx
|
2
|
1
|
28
|
1
|
12
|
0 |
0 |
0 |
0 |
0 |
44
|
Ambry Genetics
|
0 |
0 |
26
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
29
|
Human Evolutionary Genetics, Institut Pasteur
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
17
|
17
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
2
|
6
|
7
|
0 |
0 |
0 |
0 |
0 |
15
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
14
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
15
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
3
|
6
|
6
|
0 |
0 |
0 |
0 |
0 |
15
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
11
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
OMIM
|
7
|
0 |
1
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
10
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
10
|
0 |
0 |
0 |
0 |
0 |
10
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
6
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Preventiongenetics, part of Exact Sciences
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
8
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
2
|
2
|
3
|
0 |
0 |
0 |
0 |
0 |
7
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
0 |
5
|
0 |
0 |
0 |
0 |
0 |
6
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Revvity Omics, Revvity Omics
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Department of Immunology, Hospital Universitario Virgen del Rocio
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Blueprint Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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