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 |
risk factor |
total |
0 |
1
|
8
|
2
|
7
|
5
|
20
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
GIGYF2
|
1
|
8
|
2
|
7
|
5
|
20
|
Submitter and significance breakdown #
Submitter |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
2
|
4
|
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
6
|
0 |
6
|
OMIM
|
0 |
0 |
0 |
0 |
5
|
5
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
5
|
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
5
|
0 |
5
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
1
|
0 |
0 |
0 |
1
|
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