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 |
23
|
16
|
485
|
343
|
59
|
2
|
897
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
23
|
11
|
451
|
327
|
50
|
0 |
862
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
47
|
27
|
30
|
0 |
104
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
1
|
5
|
0 |
0 |
0 |
8
|
Mendelics
|
0 |
0 |
0 |
2
|
2
|
0 |
4
|
Athena Diagnostics Inc
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Lab, Nemours Children's Health, Delaware
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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