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 |
17
|
8
|
359
|
186
|
15
|
2
|
583
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
DAG1
|
8
|
2
|
330
|
185
|
14
|
2
|
537
|
LAMB1
|
8
|
6
|
29
|
1
|
0 |
0 |
44
|
AMT, ARIH2, ARIH2OS, C3orf62, C3orf84, CCDC71, DAG1, DALRD3, GPX1, IHO1, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, NICN1, P4HTM, QARS1, QRICH1, RHOA, SLC25A20, TCTA, USP19, USP4, WDR6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DLD, LAMB1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
7
|
2
|
328
|
184
|
13
|
0 |
534
|
Revvity Omics, Revvity
|
1
|
0 |
14
|
0 |
0 |
0 |
15
|
Baylor Genetics
|
1
|
0 |
10
|
0 |
0 |
0 |
11
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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