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 |
48
|
9
|
190
|
49
|
8
|
9
|
304
|
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 |
PALB2
|
48
|
9
|
190
|
49
|
8
|
9
|
304
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Fulgent Genetics, Fulgent Genetics
|
27
|
5
|
136
|
37
|
2
|
0 |
207
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
16
|
7
|
0 |
69
|
Revvity Omics, Revvity
|
17
|
2
|
8
|
0 |
0 |
0 |
27
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
Baylor Genetics
|
1
|
0 |
5
|
0 |
0 |
0 |
6
|
Leiden Open Variation Database
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Functional Genomics, Research Centre for Medical Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Immunology and Genetics Kaiserslautern
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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