Variants studied for neutropenia, severe congenital, 2, autosomal dominant

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
1	0	148	107	33	1	281

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
GFI1	0	136	99	31	1	259
GFI1, LOC129930930	1	9	8	2	0	19
BRDT, BTBD8, C1orf146, EPHX4, GFI1, GLMN, RPAP2	0	1	0	0	0	1
CLPB	0	1	0	0	0	1
DIPK1A, EVI5, GFI1, RPL5, SNORD21	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	0	143	99	33	0	275
Fulgent Genetics, Fulgent Genetics	0	2	3	1	0	6
Mendelics	0	0	4	0	0	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	2	1	0	0	3
OMIM	1	0	0	0	0	1
Baylor Genetics	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	1	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	1	1

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