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 |
21
|
2
|
32
|
0 |
1
|
55
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
14
|
0 |
1
|
0 |
15
|
Mendelics
|
0 |
0 |
15
|
0 |
15
|
Baylor Genetics
|
1
|
0 |
11
|
0 |
12
|
Genetics and Molecular Pathology, SA Pathology
|
2
|
0 |
2
|
0 |
4
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
1
|
0 |
0 |
2
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
|
2
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
2
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
1
|
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
1
|
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
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
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
1
|
Pars Genome Lab
|
1
|
0 |
0 |
0 |
1
|
Laan Lab, Human Genetics Research Group, University of Tartu
|
1
|
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
1
|
0 |
1
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
0 |
0 |
1
|
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