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
211 168 1700 415 102 1 1 2544

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
FANCA 108 110 272 44 8 0 0 510
SLX4 10 4 279 56 6 0 0 354
FANCM 0 1 236 23 10 1 0 264
FANCI 9 2 168 26 4 0 0 209
AOPEP, FANCC 11 7 149 20 4 0 0 191
BRCA2 1 0 29 77 17 0 0 124
FANCA, ZNF276 6 21 65 18 4 0 0 111
FANCD2, LOC107303338 8 1 64 25 16 0 0 109
FANCC 19 2 74 13 1 0 0 107
FANCG 12 3 68 8 3 0 0 94
BRIP1 1 0 60 29 0 0 0 90
FANCF 2 1 69 11 4 0 0 87
FANCD2, FANCD2OS 0 0 32 4 8 0 0 44
PALB2 0 0 9 23 3 0 1 36
FANCB 0 2 24 5 3 0 0 34
FANCE 0 0 25 5 3 0 0 33
FANCL, VRK2 2 5 23 3 1 0 0 33
FANCL 4 2 21 5 0 0 0 32
FANCA, LOC112486223 10 7 8 3 0 0 0 26
FANCI, POLG 1 0 15 5 5 0 0 26
FANCD2 1 0 5 2 0 0 0 8
RAD51C 0 0 2 6 0 0 0 8
BRCA2, LOC106721785 0 0 1 2 1 0 0 4
FANCG, VCP 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
FANCA, LOC112486223, ZNF276 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 155 46 1109 98 16 1 0 1424
Illumina Clinical Services Laboratory,Illumina 1 1 562 276 77 0 0 917
Counsyl 29 101 66 4 0 0 0 200
Mendelics 7 5 45 36 13 0 0 106
Fulgent Genetics,Fulgent Genetics 2 5 15 0 0 0 0 22
Molecular Diagnostics Laboratory, M Health: University of Minnesota 6 10 0 0 0 0 0 16
OMIM 15 0 0 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 6 3 0 0 0 0 0 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 1 0 0 0 0 0 6
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
Natera Inc 1 0 1 0 1 0 0 3
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
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
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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1

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