ClinVar Miner

Variants in gene combination AOPEP, FANCC

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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
47 54 313 173 36 11 546

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fanconi anemia 30 10 162 73 12 0 287
Fanconi anemia, complementation group C 19 42 127 36 14 0 225
Hereditary cancer-predisposing syndrome 7 3 85 59 4 0 158
not provided 9 10 87 29 6 2 135
not specified 0 0 12 57 23 9 90
Fanconi anemia, complementation group A 1 0 11 9 1 0 22
Malignant tumor of breast 0 1 12 3 5 0 21
Hereditary breast and ovarian cancer syndrome 0 0 1 2 0 0 3
Hypothyroidism, central, and testicular enlargement 0 0 1 2 0 0 3
Familial ovarian cancer 0 0 1 0 0 0 1
Fanconi anemia, complementation group C; Tracheoesophageal fistula 1 0 0 0 0 0 1
Premature ovarian failure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 10 160 81 12 0 293
GeneDx 8 8 81 57 19 0 173
Ambry Genetics 7 3 85 59 4 0 158
Illumina Clinical Services Laboratory,Illumina 0 0 62 18 14 0 94
Natera, Inc. 0 3 45 15 1 0 64
Counsyl 0 36 15 4 0 0 55
Department of Pathology and Laboratory Medicine,Sinai Health System 0 3 18 6 6 0 33
Mendelics 3 1 13 9 1 0 27
Integrated Genetics/Laboratory Corporation of America 2 7 5 5 7 0 26
Leiden Open Variation Database 14 0 10 2 0 0 26
Baylor Genetics 3 1 5 0 0 0 9
ITMI 0 0 0 0 0 9 9
Genetic Services Laboratory, University of Chicago 0 0 3 1 2 0 6
OMIM 4 0 0 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 1 3 0 4
Myriad Women's Health, Inc. 0 4 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 1 0 0 3
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 1 2 0 0 3
GeneReviews 2 0 0 0 0 0 2
SNPedia 0 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1

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