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 |
9
|
10
|
10
|
0 |
2
|
27
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
SLC34A1
|
9
|
10
|
10
|
2
|
27
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
benign |
total |
OMIM
|
6
|
0 |
0 |
0 |
6
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
2
|
1
|
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
2
|
1
|
0 |
3
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
1
|
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
2
|
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
2
|
2
|
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute
|
1
|
1
|
0 |
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
2
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
1
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
0 |
0 |
1
|
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
0 |
0 |
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
0 |
1
|
0 |
0 |
1
|
MK Azim Lab, Mohammad Ali Jinnah University
|
0 |
0 |
1
|
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
1
|
0 |
0 |
1
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
0 |
0 |
1
|
0 |
1
|
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