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 |
|
4
|
1
|
148
|
76
|
33
|
2
|
249
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
132
|
70
|
23
|
0 |
225
|
|
Ambry Genetics
|
0 |
0 |
26
|
5
|
0 |
0 |
31
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
2
|
7
|
20
|
0 |
29
|
|
GeneDx
|
0 |
0 |
1
|
0 |
17
|
0 |
18
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
1
|
1
|
2
|
10
|
0 |
14
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
1
|
9
|
0 |
0 |
10
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Revvity Omics, Revvity
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Laboratory of Hereditary Immune Disorders, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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