ClinVar Miner

Variants in gene combination FANCA, LOC112486223

See also:
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 not provided total
18 11 64 54 8 2 137

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 13 1 46 50 5 0 108
Fanconi anemia complementation group A 14 10 18 3 3 0 40
not provided 2 0 12 4 5 0 23
not specified 0 0 3 1 3 2 7
Inborn genetic diseases 0 0 6 0 0 0 6
FANCA-related condition 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 1 39 50 4 0 107
Natera, Inc. 4 0 17 6 4 0 31
Fulgent Genetics, Fulgent Genetics 2 2 8 3 0 0 15
Illumina Laboratory Services, Illumina 0 1 7 0 3 0 11
Leiden Open Variation Database 9 1 1 0 0 0 11
GeneDx 1 0 2 2 5 0 10
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 6 1 2 0 10
Counsyl 1 6 2 0 0 0 9
Genetic Services Laboratory, University of Chicago 2 0 3 0 1 0 6
Ambry Genetics 0 0 6 0 0 0 6
Baylor Genetics 3 2 0 0 0 0 5
Revvity Omics, Revvity Omics 5 0 0 0 0 0 5
Preventiongenetics, part of Exact Sciences 0 0 1 1 2 0 4
Sema4, Sema4 1 0 2 1 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 2 0 1 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 3
ITMI 0 0 0 0 0 2 2
Myriad Genetics, Inc. 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 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.