ClinVar Miner

Variants studied for Fanconi anemia complementation group A

Included ClinVar conditions (3):
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
154 150 1381 639 311 1 1 2472

Gene and significance breakdown #

Total genes and gene combinations: 28
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
FANCA 80 103 219 91 34 0 0 486
SLX4 7 2 240 110 54 0 0 381
FANCI 7 1 140 46 34 0 0 209
AOPEP, FANCC 6 6 116 49 13 0 0 185
FANCM 0 0 125 38 32 1 0 175
BRCA2 0 0 29 77 17 0 0 123
FANCA, ZNF276 6 19 55 27 9 0 0 108
FANCC 17 1 68 20 5 0 0 108
FANCD2, LOC107303338 5 1 52 33 29 0 0 105
FANCG 7 3 56 21 7 0 0 93
BRIP1 1 0 60 29 0 0 0 90
FANCF 1 1 62 19 16 0 0 90
FANCB 0 1 30 7 23 0 0 61
FANCD2, FANCD2OS 0 0 30 5 9 0 0 43
FANCL 3 2 17 11 4 0 0 36
PALB2 0 0 9 23 3 0 1 36
FANCE 0 0 25 5 3 0 0 33
FANCL, VRK2 1 3 18 7 5 0 0 32
FANCI, POLG 1 0 13 6 5 0 0 25
FANCA, LOC112486223 6 7 8 3 2 0 0 22
RAD51C 0 0 2 6 0 0 0 8
FANCD2 1 0 4 2 0 0 0 7
FANCG, VCP 0 0 1 2 6 0 0 6
BRCA2, LOC106721785 0 0 1 2 1 0 0 4
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 1 0 0 0 0 2
BRCA1 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

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 103 34 812 357 238 1 0 1545
Illumina Clinical Services Laboratory,Illumina 1 1 562 276 77 0 0 917
Counsyl 29 101 65 4 0 0 0 199
Fulgent Genetics 2 5 15 0 0 0 0 22
OMIM 15 0 0 0 0 0 0 15
Molecular Diagnostics Laboratory,M Health: University of Minnesota 6 8 0 0 0 0 0 14
Genetic Services Laboratory, University of Chicago 6 3 0 0 0 0 0 9
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
GeneReviews 2 0 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 0 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 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
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.