ClinVar Miner

Variants studied for Fanconi anemia complementation group N

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 23 245 64 8 12 394

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PALB2 54 23 245 64 8 12 393
DCTN5, PALB2 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
Fulgent Genetics, Fulgent Genetics 35 15 174 37 2 0 263
Illumina Laboratory Services, Illumina 0 0 45 16 7 0 68
Department of Pathology and Laboratory Medicine, Sinai Health System 7 0 31 17 1 0 56
Juno Genomics, Hangzhou Juno Genomics, Inc 7 5 0 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 10 10
Baylor Genetics 1 0 5 0 0 0 6
Leiden Open Variation Database 6 0 0 0 0 0 6
OMIM 6 0 0 0 0 0 6
Otogenetics 3 0 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Dasa 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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