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 |
not provided |
total |
39
|
15
|
153
|
38
|
2
|
4
|
2
|
249
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
PALB2
|
38
|
15
|
153
|
38
|
2
|
3
|
2
|
248
|
DCTN5, PALB2
|
1
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Fulgent Genetics, Fulgent Genetics
|
27
|
5
|
136
|
37
|
2
|
0 |
0 |
207
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
7
|
4
|
0 |
0 |
0 |
0 |
0 |
11
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
3
|
1
|
5
|
1
|
0 |
0 |
0 |
10
|
Leiden Open Variation Database
|
2
|
0 |
8
|
0 |
0 |
0 |
0 |
10
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
3
|
3
|
1
|
0 |
0 |
0 |
0 |
7
|
OMIM
|
0 |
0 |
0 |
0 |
0 |
4
|
0 |
4
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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