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 |
|
15
|
25
|
159
|
74
|
28
|
277
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Fulgent Genetics, Fulgent Genetics
|
1
|
19
|
87
|
3
|
0 |
110
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
6
|
0 |
28
|
48
|
15
|
97
|
|
Ambry Genetics
|
0 |
0 |
51
|
6
|
0 |
57
|
|
GeneDx
|
1
|
1
|
7
|
13
|
14
|
36
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
2
|
15
|
15
|
3
|
36
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
0 |
11
|
6
|
17
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
2
|
5
|
2
|
9
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
2
|
0 |
0 |
3
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
1
|
1
|
3
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Revvity Omics, Revvity
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
0 |
0 |
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
0 |
2
|
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Center for Precision Medicine, Vanderbilt University Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
1
|
0 |
0 |
1
|
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Molecular Oncology Research Center, Barretos Cancer Hospital
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences
|
1
|
0 |
0 |
0 |
0 |
1
|
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