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 |
32
|
36
|
281
|
202
|
84
|
2
|
564
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
10
|
1
|
112
|
129
|
39
|
0 |
291
|
GeneDx
|
6
|
10
|
44
|
68
|
57
|
0 |
185
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
92
|
8
|
32
|
0 |
132
|
Ambry Genetics
|
2
|
3
|
59
|
8
|
0 |
0 |
72
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
2
|
7
|
8
|
1
|
0 |
21
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
1
|
13
|
3
|
0 |
18
|
Baylor Genetics
|
1
|
2
|
9
|
0 |
0 |
0 |
12
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
3
|
3
|
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Revvity Omics, Revvity
|
2
|
0 |
5
|
0 |
0 |
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
2
|
1
|
0 |
0 |
6
|
Mendelics
|
4
|
1
|
0 |
0 |
1
|
0 |
6
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
4
|
0 |
0 |
0 |
6
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
2
|
2
|
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Leipzig Medical Center
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Pediatric Genomics Discovery Program, Yale University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Heidelberg University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Neurology Laboratory, National Cheng Kung University Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Istanbul Faculty of Medicine, Istanbul University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Pediatric Department, Xiangya Hospital, Central South University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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