Variants studied for Severe combined immunodeficiency due to DNA-PKcs 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
3	0	1149	1252	105	2	2496

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
PRKDC	3	1109	1211	100	2	2410
LOC121740717, PRKDC	0	23	16	3	0	42
LOC129929030, PRKDC	0	11	17	1	0	29
LOC130000337, PRKDC	0	3	8	1	0	12
MCM4, PRKDC	0	2	0	0	0	2
CLXN, MCM4, PRKDC, SNAI2, UBE2V2	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	1	1130	1248	105	0	2484
Baylor Genetics	0	14	0	0	0	14
Fulgent Genetics, Fulgent Genetics	0	5	3	1	0	9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	9	0	0	0	9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	2	1	2	0	5
Revvity Omics, Revvity	0	5	0	0	0	5
OMIM	2	0	0	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
New York Genome Center	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1

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