Variants studied for Severe combined immunodeficiency due to IKK2 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	total
18	5	220	431	25	695

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
IKBKB	18	5	207	418	24	668
IKBKB, LOC126860373	0	0	10	13	1	24
ANK1, AP3M2, CHRNA6, CHRNB3, DKK4, IKBKB, KAT6A, PLAT, POLB, SLC20A2, SMIM19, THAP1, VDAC3	0	0	1	0	0	1
AP3M2, IKBKB, KAT6A, PLAT	0	0	1	0	0	1
CHRNA6, CHRNB3, DKK4, FNTA, HGSNAT, HOOK3, IKBKB, POLB, POMK, RNF170, SLC20A2, SMIM19, THAP1, VDAC3	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	16	2	214	430	25	687
OMIM	2	0	0	0	0	2
Baylor Genetics	1	0	1	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	1	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Mendelics	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	1	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	0	1
Breda Genetics srl	0	0	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	0	0	1
3billion	0	0	1	0	0	1

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