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 |
affects |
not provided |
total |
104
|
58
|
451
|
279
|
49
|
1
|
8
|
930
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
affects |
not provided |
total |
Invitae
|
97
|
44
|
447
|
278
|
30
|
0 |
0 |
896
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
39
|
0 |
0 |
39
|
MGZ Medical Genetics Center
|
5
|
4
|
4
|
0 |
0 |
0 |
0 |
13
|
Fulgent Genetics, Fulgent Genetics
|
5
|
2
|
1
|
1
|
2
|
0 |
0 |
11
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
3
|
2
|
3
|
0 |
0 |
0 |
0 |
8
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Athena Diagnostics
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
3billion
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
SIB Swiss Institute of Bioinformatics
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GeniaGeo, Laboratorio Genia
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
|
1
|
0 |
0 |
0 |
0 |
1
|
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute for Molecular Bioscience, The University of Queensland
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuromuscular disorders lab, University of Helsinki
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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