ClinVar Miner

Variants studied for Fanconi anemia complementation group C

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 not provided total
61 129 232 63 28 9 465

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AOPEP, FANCC 33 74 181 51 20 3 328
FANCC 25 54 50 12 8 6 132
DCLRE1B 2 0 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 0 0 2
ZAP70 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 75 19 17 0 112
Fulgent Genetics, Fulgent Genetics 13 10 69 16 0 0 108
Natera, Inc. 0 3 70 19 1 0 93
Baylor Genetics 28 41 14 0 0 0 83
Counsyl 1 55 19 5 0 0 80
Leiden Open Variation Database 33 0 2 0 0 0 35
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 18 0 0 0 0 30
Myriad Genetics, Inc. 3 18 0 0 0 0 21
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 5 15 0 20
Revvity Omics, Revvity 8 5 5 0 0 0 18
Mendelics 7 1 6 1 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 10 0 0 0 12
OMIM 10 0 0 0 0 0 10
Genome-Nilou Lab 0 0 1 3 3 0 7
GeneReviews 0 0 0 0 0 6 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 3 1 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
New York Genome Center 1 1 0 0 0 0 2
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 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
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
King Fahd Medical Research Center, King Abdulaziz University 0 0 1 0 0 0 1

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