Variants studied for MHC class I 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	not provided	total
36	8	529	396	88	1	1048

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TAP1	17	3	156	151	22	1	343
TAP2	15	4	163	117	41	0	338
TAPBP	0	0	161	92	16	0	268
LOC107648851, TAP2	2	1	27	23	6	0	59
PSMB8, TAP1	1	0	20	13	3	0	37
PSMB8, TAP2	1	0	1	0	0	0	2
B3GALT4, COL11A2, CUTA, DAXX, HSD17B8, KIFC1, MIR219A1, PFDN6, PHF1, RGL2, RING1, RPS18, RXRB, SLC39A7, SYNGAP1, TAPBP, VPS52, WDR46, ZBTB22	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	32	4	516	392	85	0	1029
Fulgent Genetics, Fulgent Genetics	0	0	4	8	0	0	12
Genome-Nilou Lab	0	0	0	0	11	0	11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	8	0	1	0	10
Baylor Genetics	0	0	6	0	0	0	6
Revvity Omics, Revvity	1	0	5	0	0	0	6
OMIM	3	0	0	0	0	0	3
Mendelics	0	0	0	0	3	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	2	0	0	0	0	2
New York Genome Center	0	0	2	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	2	0	0	0	2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	0	1
Genomics Facility, Ludwig-Maximilians-Universität München	0	1	0	0	0	0	1
3billion	1	0	0	0	0	0	1

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