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 |
8
|
7
|
332
|
323
|
94
|
2
|
698
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1
|
1
|
248
|
256
|
28
|
0 |
534
|
GeneDx
|
0 |
1
|
34
|
60
|
78
|
0 |
173
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
58
|
3
|
9
|
0 |
70
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
15
|
20
|
0 |
35
|
Revvity Omics, Revvity
|
0 |
2
|
29
|
0 |
0 |
0 |
31
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
4
|
9
|
6
|
0 |
20
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
11
|
1
|
6
|
0 |
19
|
Ambry Genetics
|
0 |
0 |
14
|
1
|
0 |
0 |
15
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
4
|
10
|
1
|
0 |
15
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
13
|
0 |
13
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
1
|
0 |
0 |
4
|
SIB Swiss Institute of Bioinformatics
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Athena Diagnostics Inc
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Breda Genetics srl
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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