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.
Gene and significance breakdown #
Total genes and gene combinations: 60
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
FANCA
|
687
|
305
|
1301
|
1720
|
119
|
9
|
3761
|
FANCM
|
143
|
20
|
1227
|
563
|
45
|
0 |
1996
|
SLX4
|
89
|
19
|
1095
|
641
|
81
|
0 |
1894
|
FANCI
|
107
|
50
|
679
|
799
|
62
|
0 |
1675
|
FANCD2, LOC107303338
|
78
|
31
|
337
|
446
|
46
|
0 |
919
|
FANCG
|
95
|
32
|
226
|
430
|
10
|
0 |
784
|
AOPEP, FANCC
|
71
|
26
|
316
|
345
|
17
|
0 |
762
|
FANCA, ZNF276
|
111
|
50
|
266
|
279
|
28
|
0 |
657
|
FANCL
|
59
|
30
|
210
|
263
|
22
|
0 |
570
|
FANCB
|
7
|
3
|
222
|
254
|
65
|
0 |
529
|
FANCC
|
70
|
12
|
141
|
178
|
8
|
0 |
405
|
FANCD2, FANCD2OS
|
29
|
20
|
147
|
198
|
8
|
0 |
396
|
FANCF
|
24
|
4
|
186
|
88
|
12
|
0 |
310
|
FANCA, LOC112486223
|
18
|
11
|
54
|
50
|
5
|
0 |
123
|
FANCA, LOC130059837
|
18
|
13
|
43
|
31
|
1
|
0 |
90
|
FANCD2
|
14
|
5
|
26
|
23
|
2
|
0 |
70
|
FANCA, LOC132090450
|
11
|
8
|
13
|
32
|
2
|
0 |
61
|
FANCI, POLG, POLGARF
|
1
|
0 |
20
|
24
|
6
|
0 |
51
|
FANCF, LOC130005443
|
0 |
0 |
22
|
11
|
1
|
0 |
34
|
FANCE
|
1
|
1
|
17
|
8
|
3
|
0 |
30
|
FANCL, VRK2
|
1
|
0 |
12
|
14
|
1
|
0 |
26
|
intergenic
|
24
|
0 |
0 |
0 |
0 |
0 |
24
|
BRCA2
|
3
|
0 |
10
|
7
|
1
|
0 |
21
|
FANCM, LOC130055524
|
1
|
0 |
12
|
8
|
0 |
0 |
21
|
BRIP1
|
1
|
0 |
16
|
3
|
0 |
0 |
20
|
FANCA, LOC132090445, ZNF276
|
4
|
2
|
3
|
11
|
0 |
0 |
18
|
FANCF, LOC130005444
|
0 |
0 |
9
|
4
|
1
|
0 |
14
|
FANCA, LOC130059837, LOC130059838
|
11
|
1
|
0 |
0 |
0 |
0 |
12
|
FANCA, LOC112486223, LOC130059839
|
9
|
1
|
1
|
0 |
0 |
0 |
11
|
FANCE, LOC129996245
|
0 |
2
|
5
|
3
|
0 |
0 |
10
|
ZNF469
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
FANCG, VCP
|
0 |
0 |
2
|
4
|
6
|
0 |
7
|
FANCI, POLG
|
2
|
1
|
2
|
1
|
2
|
0 |
7
|
RAD51C
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
PALB2
|
0 |
0 |
1
|
1
|
0 |
1
|
3
|
AOPEP, FANCC, LOC100507346, LOC105376156, LOC110121043, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC132089731, LOC132089732, LOC132089733, PTCH1
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
BRCA1
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
FANCA, LOC130059837, LOC130059838, LOC132090450
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
FANCA, SPIRE2
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SPATA2L, SPATA33, SPG7, VPS9D1, ZNF276
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BRCA2, LOC106721785
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BRK1, FANCD2, FANCD2OS, VHL
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
C14orf28, FANCM, FKBP3, FSCB, KLHL28, PRPF39, TOGARAM1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CDK10, CENPBD1, CHMP1A, CPNE7, DBNDD1, DEF8, DPEP1, FANCA, GAS8, MC1R, RPL13, SPATA2L, SPATA33, SPG7, SPIRE2, TCF25, TUBB3, VPS9D1, ZNF276
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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
|
CDK10, CHMP1A, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DMD, FANCA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, LOC112486223, LOC125177396, LOC126862451, LOC128772421, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC132090451, LOC132090890, MC1R, SPIRE2, TCF25
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, LOC112486223, LOC129390817, LOC130059837, LOC130059838, LOC130059839, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, ZNF276
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, LOC112486223, LOC130059837, LOC130059838, LOC130059839
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCA, MC1R, SPIRE2, TCF25, ZNF276
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCC, PTCH1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FANCF, LOC130005443, LOC130005444
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
FANCL, LOC129388866, LOC129933782, VRK2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FANCL, LOC129388866, VRK2
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC112486220, ZNF469
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130058346, SLX4
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1313
|
339
|
5995
|
6231
|
495
|
0 |
14372
|
Natera, Inc.
|
56
|
14
|
539
|
85
|
53
|
0 |
747
|
Sema4, Sema4
|
10
|
20
|
339
|
274
|
46
|
0 |
689
|
Leiden Open Variation Database
|
419
|
6
|
90
|
1
|
0 |
0 |
516
|
Fulgent Genetics, Fulgent Genetics
|
28
|
30
|
204
|
81
|
3
|
0 |
346
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
199
|
46
|
52
|
0 |
299
|
Baylor Genetics
|
117
|
108
|
40
|
0 |
0 |
0 |
265
|
Counsyl
|
26
|
98
|
64
|
4
|
0 |
0 |
192
|
Mendelics
|
7
|
5
|
38
|
36
|
13
|
0 |
99
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
31
|
41
|
0 |
0 |
0 |
0 |
72
|
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
|
4
|
2
|
49
|
0 |
0 |
0 |
55
|
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
|
24
|
5
|
26
|
0 |
0 |
0 |
55
|
Genome-Nilou Lab
|
0 |
0 |
13
|
3
|
33
|
0 |
49
|
Myriad Genetics, Inc.
|
5
|
35
|
3
|
0 |
0 |
0 |
43
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
8
|
6
|
8
|
0 |
0 |
0 |
22
|
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
|
Genetic Services Laboratory, University of Chicago
|
6
|
3
|
0 |
0 |
0 |
0 |
9
|
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 for Molecular Medicine, Mass General Brigham Personalized Medicine
|
5
|
1
|
0 |
0 |
0 |
0 |
6
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
2
|
2
|
1
|
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Department of Hematology, University of Health Sciences
|
0 |
2
|
0 |
2
|
0 |
0 |
4
|
Molecular Genetics and Enzymology, National Research Centre
|
4
|
0 |
0 |
0 |
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
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
2
|
0 |
0 |
0 |
0 |
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
|
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
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
0 |
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
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Program, 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
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
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
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
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
|
Reproductive Health Research and Development, BGI Genomics
|
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
|
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
|
Cytogenetique et Genetique Moleculaire, CHU Besancon
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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