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 |
|
3
|
6
|
43
|
10
|
4
|
58
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Ambry Genetics
|
0 |
0 |
34
|
1
|
0 |
35
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
0 |
3
|
2
|
7
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
4
|
0 |
0 |
6
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
2
|
2
|
1
|
5
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
1
|
0 |
3
|
4
|
|
GeneDx
|
0 |
3
|
0 |
0 |
0 |
3
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
0 |
1
|
2
|
3
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
1
|
0 |
2
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
0 |
1
|
0 |
2
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
1
|
1
|
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
1
|
0 |
1
|
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
1
|
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