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 |
total |
|
5
|
8
|
135
|
99
|
82
|
2
|
300
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
83
|
67
|
26
|
0 |
176
|
|
GeneDx
|
0 |
1
|
10
|
25
|
51
|
0 |
87
|
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
9
|
7
|
33
|
0 |
50
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
2
|
13
|
35
|
0 |
50
|
|
Ambry Genetics
|
0 |
0 |
42
|
4
|
0 |
0 |
46
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
8
|
4
|
0 |
12
|
|
Revvity Omics, Revvity
|
2
|
4
|
1
|
0 |
0 |
0 |
7
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
2
|
2
|
0 |
7
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
2
|
5
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Immunology and Genetics Kaiserslautern
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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