ClinVar Miner

Variants in gene combination AOPEP, FANCC

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
17 40 187 100 27 11 333

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 6 6 116 49 13 0 185
not provided 9 8 78 2 5 2 100
not specified 0 0 9 56 22 9 86
Fanconi anemia, complementation group C 6 34 23 5 0 0 66
Hereditary cancer-predisposing syndrome 2 1 19 15 4 0 41
Fanconi anemia, complementation group C; Tracheoesophageal fistula 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 8 8 81 53 18 0 168
Invitae 6 6 80 40 11 0 143
Counsyl 0 33 14 4 0 0 51
Illumina Clinical Services Laboratory,Illumina 0 0 37 9 2 0 48
Ambry Genetics 2 1 19 15 4 0 41
Integrated Genetics/Laboratory Corporation of America 1 4 2 1 6 0 14
Mendelics 2 1 10 1 0 0 14
ITMI 0 0 0 0 0 9 9
Genetic Services Laboratory, University of Chicago 0 0 3 2 1 0 6
OMIM 4 0 0 0 0 0 4
PreventionGenetics 0 0 0 1 3 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 1 0 0 3
GeneReviews 2 0 0 0 0 0 2
SNPedia 0 0 0 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 0 1
Fulgent Genetics 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 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.