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)
		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
174	68	845	420	17	3	1490

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	146	63	765	372	17	2	1333
LOC129390903, RAD51C	19	3	67	30	0	1	117
LOC130061310, RAD51C	2	2	9	18	0	0	29
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: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	172	53	829	408	15	0	1477
Fulgent Genetics, Fulgent Genetics	11	7	47	12	0	0	77
Counsyl	9	7	29	14	5	0	63
Mendelics	2	4	5	13	1	0	25
Illumina Laboratory Services, Illumina	0	0	10	1	2	0	13
Revvity Omics, Revvity	5	2	0	0	0	0	7
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	0	2
OMIM	1	0	0	0	0	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	1	0	0	0	0	0	1
Leiden Open Variation Database	1	0	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1

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