Variants studied for Fanconi anemia complementation group O

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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
210	69	920	493	18	1687

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	179	66	835	438	18	1515
LOC129390903, RAD51C	22	1	72	35	0	130
LOC130061310, RAD51C	2	2	9	20	0	31
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: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	209	59	907	483	16	1674
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	3	1	0	0	9
Baylor Genetics	1	0	5	0	0	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	1	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	0	1	0	3
Daryl Scott Lab, Baylor College of Medicine	0	0	2	0	0	2
Division of Human Genetics, Children's Hospital of Philadelphia	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Leiden Open Variation Database	1	0	0	0	0	1
OMIM	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1

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