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 |
|
6
|
2
|
147
|
47
|
32
|
216
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Ambry Genetics
|
0 |
0 |
83
|
7
|
0 |
90
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
0 |
0 |
23
|
19
|
17
|
59
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
49
|
2
|
8
|
59
|
|
GeneDx
|
0 |
0 |
5
|
16
|
22
|
43
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
2
|
7
|
11
|
20
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
7
|
8
|
15
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
7
|
2
|
0 |
9
|
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Reproductive and Stem Cell Engineering, Central South University
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
2
|
|
Molecular Medicine, University of Pavia
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
1
|
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