ClinVar Miner

Variants in gene PRKDC

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
4 1 2216 1514 149 6 3802

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Severe combined immunodeficiency due to DNA-PKcs deficiency 3 0 1177 948 97 2 2212
Inborn genetic diseases 0 0 1166 624 0 0 1790
not provided 1 1 35 94 55 4 184
not specified 0 0 12 22 20 0 52
Microcephaly 0 0 4 0 0 0 4
PRKDC-related condition 0 0 2 0 0 0 2
Immunodeficiency 26 without neurologic abnormalities 1 0 0 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 0 1159 952 98 0 2210
Ambry Genetics 0 0 1166 624 0 0 1790
GeneDx 0 1 15 73 65 0 154
CeGaT Center for Human Genetics Tuebingen 0 0 9 26 2 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 11 3 2 0 16
Baylor Genetics 0 0 13 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 2 0 9
Fulgent Genetics, Fulgent Genetics 0 0 5 3 1 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 7 1 0 9
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 8 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 1 2 0 6
Blueprint Genetics 0 0 6 0 0 0 6
Revvity Omics, Revvity Omics 0 0 5 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 4 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 4 0 0 0 4
OMIM 3 0 0 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
Preventiongenetics, part of Exact Sciences 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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