ClinVar Miner

Variants studied for Fanconi anemia complementation group D2

Included ClinVar conditions (1):
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
55 132 330 56 50 1 593

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FANCD2, LOC107303338 36 93 214 41 38 1 399
FANCD2, FANCD2OS 11 33 101 13 9 0 162
FANCD2 6 5 15 2 2 0 29
BRIP1 1 0 0 0 0 0 1
FANCD2, LOC107303338, VHL 1 1 0 0 0 0 1
PEX5 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 11 38 242 41 1 0 333
Baylor Genetics 14 94 22 0 0 0 130
Illumina Laboratory Services, Illumina 0 0 75 11 33 0 119
Leiden Open Variation Database 32 0 4 0 0 0 36
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 8 28 0 36
Revvity Omics, Revvity 13 9 2 0 0 0 24
Genome-Nilou Lab 0 0 0 0 9 0 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 2 0 1 0 6
OMIM 5 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 2 0 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Mendelics 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1

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