ClinVar Miner

Variants studied for Fanconi anemia complementation group O

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
173 60 842 417 17 1488

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 total
RAD51C 145 56 763 369 17 1331
LOC129390903, RAD51C 19 2 66 30 0 117
LOC130061310, RAD51C 2 2 9 18 0 29
LOC129390903, LOC130061310, LOC130061311, RAD51C 3 0 3 0 0 6
LOC129390903, LOC130061311, RAD51C 4 0 0 0 0 4
C17orf47, HSF5, MTMR4, RAD51C, RNF43, SEPTIN4, TEX14 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 172 53 829 408 15 1477
Counsyl 3 2 15 9 4 33
Mendelics 2 4 5 13 1 25
Illumina Laboratory Services, Illumina 0 0 10 1 2 13
Revvity Omics, Revvity 5 2 0 0 0 7
Baylor Genetics 1 0 5 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 1 0 0 3
OMIM 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 1
Leiden Open Variation Database 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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