Variants studied for Fanconi anemia complementation group E

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	total
42	48	305	286	25	661

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FANCE	34	38	238	250	23	546
FANCE, LOC129996245	8	10	67	36	2	115

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	37	8	257	279	21	602
Fulgent Genetics, Fulgent Genetics	4	2	51	17	0	74
Illumina Laboratory Services, Illumina	0	1	49	3	9	62
Baylor Genetics	6	39	11	0	0	56
Leiden Open Variation Database	7	0	5	0	0	12
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	2	9	11
Revvity Omics, Revvity	2	1	4	0	0	7
OMIM	3	0	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	3
Mendelics	0	1	1	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	0	1	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	0	1	0	1
Istanbul Faculty of Medicine, Istanbul University	0	1	0	0	0	1
3billion	0	0	0	1	0	1

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