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 |
7
|
5
|
20
|
5
|
8
|
2
|
47
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
WDR81
|
7
|
5
|
20
|
5
|
8
|
2
|
47
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Baylor Genetics
|
1
|
0 |
13
|
0 |
0 |
0 |
14
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
4
|
1
|
3
|
0 |
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
1
|
0 |
0 |
4
|
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
3
|
1
|
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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