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 |
57
|
34
|
655
|
569
|
56
|
1
|
10
|
1287
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
46
|
17
|
471
|
419
|
14
|
0 |
0 |
967
|
Ambry Genetics
|
11
|
4
|
277
|
256
|
15
|
0 |
0 |
563
|
GeneDx
|
3
|
5
|
46
|
26
|
21
|
0 |
0 |
101
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
53
|
19
|
9
|
0 |
0 |
82
|
Baylor Genetics
|
0 |
0 |
36
|
0 |
0 |
0 |
0 |
36
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
4
|
17
|
3
|
0 |
0 |
25
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
11
|
2
|
12
|
0 |
0 |
25
|
Sema4, Sema4
|
0 |
0 |
13
|
9
|
1
|
0 |
0 |
23
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
4
|
10
|
1
|
0 |
0 |
17
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
5
|
3
|
2
|
0 |
0 |
10
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
0 |
2
|
7
|
0 |
0 |
9
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
8
|
0 |
1
|
0 |
0 |
9
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
7
|
0 |
0 |
0 |
0 |
7
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
1
|
0 |
6
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
3
|
3
|
0 |
0 |
0 |
6
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
2
|
3
|
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
3
|
0 |
0 |
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
3
|
0 |
0 |
5
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
1
|
3
|
0 |
0 |
0 |
0 |
5
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Revvity Omics, Revvity
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
4
|
Institute of Human Genetics, University of Goettingen
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Mendelics
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Molecular Genetics, CHU Rennes
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MutSpliceDB: a database of splice sites variants effects on splicing, NIH
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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