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 |
15
|
5
|
472
|
280
|
75
|
4
|
814
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
10
|
3
|
285
|
237
|
30
|
0 |
565
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
175
|
39
|
49
|
0 |
263
|
Ambry Genetics
|
0 |
0 |
53
|
5
|
0 |
0 |
58
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
17
|
0 |
17
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
7
|
1
|
0 |
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
4
|
2
|
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
GeneDx
|
0 |
0 |
5
|
0 |
1
|
0 |
6
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
5
|
1
|
0 |
6
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
1
|
4
|
0 |
0 |
5
|
Baylor Genetics
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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