ClinVar Miner

Variants studied for Fanconi anemia complementation group O

Included ClinVar conditions (2):
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
211 81 929 498 18 4 1695

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
RAD51C 180 77 843 443 18 3 1523
LOC129390903, RAD51C 22 2 73 35 0 1 130
LOC130061310, RAD51C 2 2 9 20 0 0 31
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 0 6
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 0 4
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 209 59 907 483 16 0 1674
Fulgent Genetics, Fulgent Genetics 13 12 82 13 0 0 120
Counsyl 9 7 29 14 5 0 63
Mendelics 2 4 5 13 1 0 25
Department of Pathology and Laboratory Medicine, Sinai Health System 3 6 7 6 0 0 22
Illumina Laboratory Services, Illumina 0 0 10 1 2 0 13
Revvity Omics, Revvity 5 3 1 0 0 0 9
Baylor Genetics 1 0 5 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Leiden Open Variation Database 1 0 0 0 0 0 1
OMIM 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1

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