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 |
59
|
21
|
424
|
251
|
14
|
1
|
2
|
705
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
45
|
1
|
260
|
226
|
6
|
0 |
0 |
538
|
Eurofins Ntd Llc (ga)
|
4
|
3
|
86
|
2
|
2
|
0 |
0 |
97
|
Fulgent Genetics, Fulgent Genetics
|
0 |
4
|
73
|
8
|
0 |
0 |
0 |
85
|
PreventionGenetics, part of Exact Sciences
|
0 |
3
|
45
|
34
|
1
|
0 |
0 |
83
|
Revvity Omics, Revvity
|
3
|
6
|
66
|
1
|
0 |
0 |
0 |
76
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
61
|
2
|
6
|
0 |
0 |
67
|
GeneDx
|
0 |
2
|
18
|
24
|
6
|
0 |
0 |
50
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
1
|
8
|
9
|
2
|
0 |
0 |
22
|
Ambry Genetics
|
0 |
0 |
20
|
0 |
0 |
0 |
0 |
20
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
16
|
0 |
0 |
0 |
0 |
16
|
Athena Diagnostics Inc
|
0 |
0 |
10
|
2
|
0 |
0 |
0 |
12
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
1
|
0 |
8
|
0 |
0 |
0 |
0 |
9
|
Bionano Laboratories
|
0 |
0 |
9
|
0 |
0 |
0 |
0 |
9
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
8
|
0 |
0 |
0 |
0 |
8
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
2
|
2
|
1
|
0 |
0 |
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
1
|
3
|
0 |
0 |
0 |
5
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
4
|
0 |
0 |
0 |
0 |
5
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
2
|
1
|
1
|
0 |
0 |
4
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
ISCA Site 6
|
0 |
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
2
|
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Molecular Endocrinology Laboratory, Christian Medical College
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NEI Ophthalmic Genomics Laboratory, National Institutes of Health
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ISCA site 1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neurogenetics Research Program, University of Adelaide
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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