ClinVar Miner

Variants studied for Severe combined immunodeficiency due to DNA-PKcs deficiency

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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 1 1189 1440 106 3 2726

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRKDC 3 1 1147 1390 101 3 2629
LOC121740717, PRKDC 0 0 25 19 3 0 47
LOC129929030, PRKDC 0 0 11 21 1 0 33
LOC130000337, PRKDC 0 0 3 10 1 0 14
MCM4, PRKDC 0 0 2 0 0 0 2
CLXN, MCM4, PRKDC, SNAI2, UBE2V2 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
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1167 1436 106 0 2710
Baylor Genetics 0 0 14 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 5 3 1 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 2 0 5
Revvity Omics, Revvity 0 0 5 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
OMIM 2 0 0 0 0 0 2
Division of Clinical Immunology and Allergy, Necmettin Erbakan University, Faculty of Medicine 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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