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 |
total |
140
|
45
|
371
|
419
|
58
|
977
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
85
|
25
|
293
|
315
|
27
|
745
|
Ambry Genetics
|
6
|
2
|
52
|
72
|
3
|
135
|
GeneDx
|
26
|
4
|
14
|
54
|
29
|
127
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
30
|
22
|
10
|
54
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
13
|
1
|
3
|
8
|
8
|
33
|
PreventionGenetics, part of Exact Sciences
|
5
|
6
|
4
|
11
|
2
|
28
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
0 |
1
|
6
|
3
|
13
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
10
|
0 |
1
|
0 |
0 |
11
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
7
|
Fulgent Genetics, Fulgent Genetics
|
5
|
0 |
1
|
1
|
0 |
7
|
Revvity Omics, Revvity
|
1
|
0 |
5
|
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
1
|
0 |
0 |
0 |
5
|
Medical Genetics Laboratory, Aldo Moro University of Bari
|
3
|
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
1
|
1
|
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
1
|
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
1
|
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
0 |
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
2
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
1
|
ISCA Site 6
|
1
|
0 |
0 |
0 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
1
|
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
1
|
Center for Reproductive Medicine, Peking University Third Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain)
|
1
|
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
1
|
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