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 |
23
|
12
|
24
|
0 |
1
|
59
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
6
|
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
0 |
0 |
6
|
0 |
6
|
Baylor Genetics
|
2
|
1
|
2
|
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
1
|
1
|
0 |
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
1
|
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
2
|
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
1
|
0 |
1
|
0 |
2
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
2
|
Dobyns Lab, Seattle Children's Research Institute
|
2
|
0 |
0 |
0 |
2
|
New York Genome Center
|
1
|
0 |
1
|
0 |
2
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
2
|
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
1
|
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
0 |
1
|
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
1
|
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
1
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
0 |
1
|
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
1
|
Jpch, Dept Of Neurology, Jiangxi Provincial Children’s Hospital
|
1
|
0 |
0 |
0 |
1
|
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