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 |
6
|
11
|
11
|
0 |
0 |
26
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
total |
Baylor Genetics
|
0 |
4
|
2
|
6
|
OMIM
|
5
|
0 |
0 |
5
|
Human Development and Health, University of Southampton
|
1
|
3
|
1
|
5
|
AiLife Diagnostics, AiLife Diagnostics
|
2
|
0 |
1
|
3
|
3billion
|
0 |
1
|
2
|
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
2
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
1
|
University of Washington Center for Mendelian Genomics, University of Washington
|
1
|
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
0 |
0 |
1
|
Daryl Scott Lab, Baylor College of Medicine
|
0 |
1
|
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
1
|
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