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 |
38
|
12
|
216
|
327
|
29
|
2
|
617
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
33
|
5
|
207
|
326
|
28
|
0 |
599
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
5
|
1
|
0 |
0 |
7
|
OMIM
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Center of Excellence for Medical Genomics, Chulalongkorn University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neurogenetics Research Program, University of Adelaide
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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