ClinVar Miner

Variants studied for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
450 310 2543 975 369 1 2 4388

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
BRIP1 99 62 750 256 24 0 0 1142
FANCA 80 103 219 91 34 0 0 486
RAD51C 51 30 276 78 8 0 0 430
SLX4 13 3 246 110 54 0 0 394
AOPEP, FANCC 11 37 135 52 13 0 0 233
FANCI 11 5 143 46 34 0 0 219
BRCA2 37 0 62 77 17 0 1 193
FANCM 0 0 125 38 32 1 0 175
FANCC 22 25 76 22 5 0 0 135
FANCD2, LOC107303338 8 3 52 34 30 0 0 111
FANCA, ZNF276 6 19 55 27 9 0 0 108
FANCG 15 3 58 21 7 0 0 103
FANCE 3 0 71 18 13 0 0 99
FANCF 5 2 64 19 16 0 0 97
PALB2 15 0 31 23 3 0 1 73
FANCB 7 1 30 7 23 0 0 68
ERCC4 7 1 27 18 13 0 0 65
BRCA1 28 0 20 0 2 0 0 50
FANCD2, FANCD2OS 1 0 30 5 9 0 0 44
FANCL 7 2 19 11 4 0 0 42
FANCL, VRK2 4 4 19 7 5 0 0 34
FANCI, POLG 1 0 13 6 5 0 0 25
FANCA, LOC112486223 6 7 8 3 2 0 0 22
FANCD2 3 1 4 2 0 0 0 10
BRIP1, LOC110120932 1 1 4 0 0 0 0 6
FANCG, VCP 0 0 1 2 6 0 0 6
BRCA2, LOC106721785 0 0 1 2 1 0 0 4
XRCC2 0 0 3 0 0 0 0 3
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 2
RAD51 1 1 0 0 0 0 0 2
RFWD3 2 0 0 0 0 0 0 2
UBE2T 2 0 0 0 0 0 0 2
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 0 0 0 0 0 1
FANCA, LOC112486223, MC1R, SPIRE2, TCF25 1 0 0 0 0 0 0 1
MAD2L2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 251 92 1825 659 288 1 0 3116
Illumina Clinical Services Laboratory,Illumina 3 4 570 276 77 0 0 930
Counsyl 49 192 215 57 16 0 0 528
Fulgent Genetics 60 6 166 0 3 0 0 235
OMIM 108 0 1 0 0 0 0 109
Mendelics 7 6 75 3 0 0 0 91
Molecular Diagnostics Laboratory,M Health: University of Minnesota 11 11 0 0 0 0 0 22
Integrated Genetics/Laboratory Corporation of America 9 10 0 0 0 0 0 19
Genetic Services Laboratory, University of Chicago 11 3 0 0 0 0 0 14
GeneReviews 12 0 0 0 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 9 0 0 0 0 11
PALB2 database 8 0 2 0 0 0 0 10
Baylor Miraca Genetics Laboratories, 1 2 2 0 0 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 3 1 0 0 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 0 0 4
Molecular Genetics and Enzymology,National Research Centre 4 0 0 0 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 2 0 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 0 2
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 0 2
Center for Individualized Medicine,Mayo Clinic 0 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 2 0 0 0 0 0 0 2
IntelligeneCG 0 0 0 0 2 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 0 0 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 0 2
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 0 1

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