Variants studied for granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

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
51	17	169	276	27	14	529

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NCF2	51	17	167	276	26	14	526
LOC129932084, NCF2	0	0	1	0	1	0	2
ACBD6, AXDND1, CACNA1E, CEP350, DHX9, FAM163A, GLUL, IER5, KIAA1614, LAMC1, LAMC2, LHX4, MR1, NCF2, NMNAT2, NPHS2, NPL, QSOX1, RGS16, RGS8, RGSL1, RNASEL, SHCBP1L, SMG7, STX6, TDRD5, TEDDM1, TOR1AIP1, TOR1AIP2, XPR1, ZNF648	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
Labcorp Genetics (formerly Invitae), Labcorp	45	13	142	271	22	0	493
Illumina Laboratory Services, Illumina	0	0	25	5	13	0	43
UniProtKB/Swiss-Prot	0	0	0	0	0	14	14
OMIM	10	0	0	0	0	0	10
Revvity Omics, Revvity	2	0	4	0	0	0	6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	3	1	0	0	0	6
Fulgent Genetics, Fulgent Genetics	0	0	0	3	0	0	3
Baylor Genetics	0	0	2	0	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	1	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	0	1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini	0	0	1	0	0	0	1
3billion	0	0	0	1	0	0	1

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