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
24 46 228 146 29 11 422

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 11 7 140 11 3 0 172
not provided 9 8 78 63 12 2 166
Hereditary cancer-predisposing syndrome 7 3 86 58 4 0 158
not specified 0 0 8 56 22 9 86
Fanconi anemia, complementation group C 8 38 24 5 0 0 71
Fanconi anemia, complementation group A 1 0 11 9 1 0 22
Fanconi anemia, complementation group C; Tracheoesophageal fistula 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 7 104 59 12 0 193
GeneDx 8 8 81 57 19 0 173
Ambry Genetics 7 3 86 58 4 0 158
Counsyl 0 37 15 4 0 0 56
Illumina Clinical Services Laboratory,Illumina 0 0 37 9 2 0 48
Mendelics 3 1 14 9 1 0 27
Integrated Genetics/Laboratory Corporation of America 1 4 1 2 6 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
Baylor Genetics 3 1 0 0 0 0 4
PreventionGenetics,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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
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,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
Natera Inc 0 0 0 0 1 0 1

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