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 |
25
|
22
|
572
|
539
|
94
|
6
|
1117
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
14
|
5
|
412
|
454
|
38
|
0 |
923
|
GeneDx
|
12
|
5
|
45
|
115
|
43
|
0 |
220
|
Ambry Genetics
|
0 |
1
|
58
|
82
|
0 |
0 |
141
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
38
|
12
|
49
|
0 |
91
|
Revvity Omics, Revvity Omics
|
6
|
0 |
51
|
0 |
0 |
0 |
57
|
Athena Diagnostics Inc
|
2
|
1
|
25
|
5
|
23
|
0 |
56
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
12
|
20
|
4
|
0 |
38
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
32
|
0 |
0 |
0 |
32
|
Genetic Services Laboratory, University of Chicago
|
7
|
3
|
5
|
6
|
8
|
0 |
29
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
4
|
6
|
12
|
0 |
22
|
Preventiongenetics, part of Exact Sciences
|
0 |
0 |
2
|
6
|
10
|
0 |
18
|
OMIM
|
13
|
0 |
0 |
0 |
0 |
0 |
13
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
5
|
3
|
3
|
0 |
12
|
Inherited Neuropathy Consortium
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
2
|
5
|
0 |
7
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
1
|
4
|
0 |
0 |
0 |
7
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
3
|
2
|
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
1
|
4
|
0 |
6
|
Baylor Genetics
|
2
|
0 |
3
|
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
2
|
1
|
1
|
0 |
5
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Mendelics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pediatric Department, Peking University First Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
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. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.