ClinVar Miner

Variants studied for Fanconi anemia, complementation group A

Coded as:
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 total
54 120 82 7 1 254

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FANCA 44 96 62 6 0 202
FANCA, ZNF276 6 17 18 1 1 41
FANCA, LOC112486223 2 7 2 0 0 9
BRCA1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 29 101 65 4 0 199
Fulgent Genetics 2 5 15 0 0 22
OMIM 15 0 0 0 0 15
Molecular Diagnostics Laboratory,M Health: University of Minnesota 6 8 0 0 0 14
Genetic Services Laboratory, University of Chicago 6 3 0 0 0 9
Illumina Clinical Services Laboratory,Illumina 0 1 3 0 0 4
Department of Hematology,University of Health Sciences 0 2 0 2 0 4
GeneReviews 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 2 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 2
Department of Pathology and Genetics,University of Gothenburg 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 1 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 1

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