Variants studied for Immunodeficiency, common variable, 4

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
1	1	109	70	13	177

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	total
LOC130067574, TNFRSF13C	1	1	72	50	8	120
TNFRSF13C	0	0	35	20	5	55
A4GALT, ACO2, ATP5MGL, CCDC134, CENPM, CHADL, CSDC2, CYB5R3, CYP2D6, DESI1, EP300, L3MBTL2, MEI1, MIR33A, NAGA, NDUFA6, NFAM1, PHETA2, PHF5A, PMM1, POLDIP3, POLR3H, RANGAP1, RBX1, RRP7A, SEPTIN3, SERHL2, SHISA8, SMDT1, SNU13, SREBF2, TCF20, TEF, TNFRSF13C, TOB2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B	0	0	1	0	0	1
ACO2, CCDC134, CENPM, CSDC2, DESI1, LOC105373044, LOC108348030, LOC110740341, LOC111562373, LOC112695098, LOC121627945, LOC121627946, LOC125446244, LOC126863159, LOC126863160, LOC130067537, LOC130067538, LOC130067539, LOC130067540, LOC130067541, LOC130067542, LOC130067543, LOC130067544, LOC130067545, LOC130067546, LOC130067547, LOC130067548, LOC130067549, LOC130067550, LOC130067551, LOC130067552, LOC130067553, LOC130067554, LOC130067555, LOC130067556, LOC130067557, LOC130067558, LOC130067559, LOC130067560, LOC130067561, LOC130067562, LOC130067563, LOC130067564, LOC130067565, LOC130067566, LOC130067567, LOC130067568, LOC130067569, LOC130067570, LOC130067571, LOC130067572, LOC130067573, LOC130067574, LOC130067575, LOC130067576, LOC130067577, LOC130067578, LOC130067579, LOC130067580, LOC130067581, MEI1, MIR33A, MIR378I, NAGA, PHF5A, PMM1, POLR3H, RANGAP1, SEPTIN3, SHISA8, SMIM45, SNU13, SREBF2, TEF, TNFRSF13C, TOB2, WBP2NL, XRCC6, ZC3H7B	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	90	66	11	167
Illumina Laboratory Services, Illumina	0	0	18	4	3	25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	4	2	7
OMIM	1	0	0	0	0	1
Revvity Omics, Revvity	0	1	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	0	1	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	0	1	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	1

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