ClinVar Miner

Variants studied for Fanconi anemia complementation group N

Included ClinVar conditions (9):
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
48 9 190 49 8 9 304

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PALB2 48 9 190 49 8 9 304

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 27 5 136 37 2 0 207
Illumina Laboratory Services, Illumina 0 0 46 16 7 0 69
Revvity Omics, Revvity 17 2 8 0 0 0 27
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Baylor Genetics 1 0 5 0 0 0 6
Leiden Open Variation Database 6 0 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1

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