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 |
total |
|
23
|
10
|
38
|
6
|
2
|
78
|
Gene and significance breakdown #
Total genes and gene combinations: 14
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
APP
|
17
|
6
|
19
|
4
|
0 |
45
|
|
HFE
|
2
|
2
|
7
|
0 |
0 |
11
|
|
MPO
|
0 |
1
|
4
|
1
|
0 |
6
|
|
NOS3
|
0 |
0 |
3
|
1
|
1
|
5
|
|
LOC106694315, MPO
|
0 |
1
|
1
|
0 |
0 |
2
|
|
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25
|
1
|
0 |
0 |
0 |
0 |
1
|
|
APP, LOC126653330
|
0 |
0 |
1
|
0 |
0 |
1
|
|
BLMH, LOC126862530
|
0 |
0 |
0 |
0 |
1
|
1
|
|
C10orf55, LOC126860960, PLAU
|
0 |
0 |
1
|
0 |
0 |
1
|
|
C10orf55, LOC130004104, PLAU
|
0 |
0 |
1
|
0 |
0 |
1
|
|
CFHR1
|
0 |
0 |
1
|
0 |
0 |
1
|
|
LOC106694316, MPO
|
1
|
0 |
0 |
0 |
0 |
1
|
|
LPO, MPO
|
1
|
0 |
0 |
0 |
0 |
1
|
|
SPG11
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
|
Fulgent Genetics, Fulgent Genetics
|
4
|
3
|
11
|
6
|
1
|
25
|
|
OMIM
|
16
|
0 |
0 |
0 |
1
|
17
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
8
|
0 |
1
|
9
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
2
|
0 |
3
|
0 |
0 |
5
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
1
|
2
|
0 |
0 |
5
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
4
|
0 |
0 |
4
|
|
Medical Genetics Unit, Mauro Baschirotto Institute for Rare Disease
|
0 |
0 |
3
|
0 |
0 |
3
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
1
|
0 |
0 |
0 |
3
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
1
|
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
2
|
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
0 |
0 |
0 |
2
|
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
2
|
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
1
|
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
1
|
0 |
0 |
0 |
0 |
1
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
1
|
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