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 |
542
|
319
|
633
|
164
|
106
|
9
|
1597
|
Gene and significance breakdown #
Total genes and gene combinations: 28
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
FANCA
|
385
|
244
|
456
|
108
|
68
|
9
|
1134
|
FANCA, ZNF276
|
67
|
40
|
110
|
11
|
20
|
0 |
226
|
FANCA, LOC112486223
|
14
|
10
|
18
|
3
|
3
|
0 |
40
|
FANCA, LOC130059837
|
14
|
13
|
9
|
3
|
0 |
0 |
31
|
intergenic
|
24
|
0 |
0 |
0 |
0 |
0 |
24
|
AOPEP, FANCC
|
1
|
0 |
7
|
12
|
1
|
0 |
21
|
FANCA, LOC132090450
|
6
|
5
|
7
|
3
|
2
|
0 |
21
|
SLX4
|
2
|
2
|
11
|
2
|
2
|
0 |
19
|
FANCD2, LOC107303338
|
0 |
0 |
0 |
6
|
8
|
0 |
14
|
FANCC
|
1
|
0 |
2
|
8
|
1
|
0 |
12
|
ZNF469
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
FANCA, LOC132090445, ZNF276
|
3
|
2
|
1
|
0 |
0 |
0 |
6
|
FANCM
|
0 |
1
|
3
|
2
|
0 |
0 |
6
|
FANCA, LOC112486223, LOC130059839
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
FANCI
|
0 |
1
|
1
|
3
|
0 |
0 |
5
|
FANCL
|
2
|
0 |
2
|
1
|
0 |
0 |
5
|
FANCA, LOC130059837, LOC130059838
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
FANCD2, FANCD2OS
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
BRCA1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
FANCG
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DMD, FANCA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCB
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FANCD2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCL, VRK2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FANCM, LOC130055524
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
LOC112486220, ZNF469
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Leiden Open Variation Database
|
419
|
6
|
90
|
1
|
0 |
0 |
516
|
Fulgent Genetics, Fulgent Genetics
|
28
|
30
|
204
|
81
|
3
|
0 |
346
|
Baylor Genetics
|
142
|
142
|
41
|
0 |
0 |
0 |
325
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
133
|
18
|
41
|
0 |
193
|
Counsyl
|
26
|
98
|
64
|
4
|
0 |
0 |
192
|
Natera, Inc.
|
19
|
1
|
114
|
16
|
39
|
0 |
189
|
Mendelics
|
7
|
5
|
35
|
38
|
13
|
0 |
98
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
1
|
0 |
0 |
18
|
42
|
0 |
61
|
Revvity Omics, Revvity
|
29
|
10
|
19
|
0 |
0 |
0 |
58
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
5
|
2
|
46
|
0 |
0 |
0 |
53
|
Genome-Nilou Lab
|
0 |
0 |
13
|
3
|
33
|
0 |
49
|
Myriad Genetics, Inc.
|
5
|
35
|
3
|
0 |
0 |
0 |
43
|
Neuberg Centre For Genomic Medicine, NCGM
|
8
|
8
|
10
|
0 |
0 |
0 |
26
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
6
|
10
|
0 |
0 |
0 |
0 |
16
|
OMIM
|
15
|
0 |
0 |
0 |
0 |
0 |
15
|
Istanbul Faculty of Medicine, Istanbul University
|
5
|
2
|
5
|
0 |
0 |
0 |
12
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
6
|
2
|
1
|
0 |
0 |
11
|
Genetic Services Laboratory, University of Chicago
|
6
|
3
|
0 |
0 |
0 |
0 |
9
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
1
|
2
|
0 |
0 |
0 |
7
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
2
|
1
|
3
|
1
|
0 |
0 |
7
|
3billion
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
4
|
2
|
0 |
0 |
0 |
0 |
6
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Department of Hematology, University of Health Sciences
|
0 |
2
|
0 |
2
|
0 |
0 |
4
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, Cologne University
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
University of Washington Center for Mendelian Genomics, University of Washington
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Department of Pathology and Genetics, University of Gothenburg
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Clinical Genomics Laboratory, Stanford Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Kids Neuroscience Centre, Sydney Children's Hospitals Network
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, Seoul National University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Individualized Medicine, Mayo Clinic
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
McDonnell Genome Institute, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Section, Sidra Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
International Fanconi Anemia Registry, The Rockefeller University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Palindrome, Gene Kavoshgaran Aria
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetique et Genetique Moleculaire, CHU Besancon
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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