Variants studied for Predisposition to invasive fungal disease due to CARD9 deficiency

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	risk factor	total
18	7	253	256	29	9	540

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
CARD9	17	7	245	254	27	9	527
CARD9, LOC113839540	0	0	6	1	1	0	8
CARD9, LOC130003002	1	0	1	1	1	0	4
CARD9, ENTR1, INPP5E, PMPCA, SNAPC4	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
Labcorp Genetics (formerly Invitae), Labcorp	18	4	223	246	26	0	517
Illumina Laboratory Services, Illumina	0	0	41	14	10	0	65
Fulgent Genetics, Fulgent Genetics	1	1	9	0	0	0	11
OMIM	0	0	0	0	0	9	9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	6	0	0	0	6
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	1	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	0	1
3billion	1	0	0	0	0	0	1

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