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 |
34
|
4
|
72
|
63
|
40
|
5
|
215
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
17
|
2
|
68
|
62
|
40
|
0 |
189
|
OMIM
|
12
|
0 |
0 |
0 |
0 |
0 |
12
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
CHU Sainte-Justine Research Center, University of Montreal
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Human Genetics, Universidade de São Paulo
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genetics Laboratory, Department of Biology, Semnan University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Heidelberg University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Unidad de Genetica, Hospital Roberto del Rio
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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