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 |
33
|
23
|
401
|
304
|
56
|
1
|
766
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
25
|
17
|
307
|
264
|
28
|
0 |
641
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
87
|
7
|
18
|
0 |
112
|
GeneDx
|
0 |
0 |
13
|
23
|
35
|
0 |
71
|
Ambry Genetics
|
0 |
0 |
29
|
2
|
0 |
0 |
31
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
22
|
3
|
3
|
0 |
30
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
1
|
21
|
2
|
0 |
25
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
4
|
4
|
1
|
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
4
|
1
|
0 |
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
4
|
1
|
0 |
5
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
NEI Ophthalmic Genomics Laboratory, National Institutes of Health
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Science for Life laboratory, Karolinska Institutet
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Blueprint Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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