ClinVar Miner

Variants in gene PRKDC

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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
4 4 2617 2123 163 103 4892

Condition and significance breakdown #

Total conditions: 37
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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 1 1147 1390 101 3 2629
not specified 0 0 1656 874 29 0 2548
not provided 1 1 72 122 70 4 256
PRKDC-related disorder 0 0 7 29 7 0 43
Ovarian serous cystadenocarcinoma 0 0 0 0 0 16 16
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 13 13
Nonpapillary renal cell carcinoma 0 0 0 0 0 9 9
Cervical cancer 0 0 0 0 0 8 8
Melanoma 0 0 0 0 0 7 7
Lung cancer 0 0 0 0 0 6 6
Malignant tumor of esophagus 0 0 0 0 0 6 6
Malignant tumor of urinary bladder 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Colon adenocarcinoma 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 4 4
Microcephaly 0 0 4 0 0 0 4
Papillary renal cell carcinoma type 1 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Thymoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Squamous cell carcinoma of the head and neck 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Neoplasm 0 2 0 0 0 0 2
Ovarian cancer 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES 1 0 0 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 1126 1393 102 0 2622
Ambry Genetics 0 0 1639 833 0 0 2472
GeneDx 0 1 26 73 65 0 165
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 99 99
Breakthrough Genomics, Breakthrough Genomics 0 0 23 37 36 0 96
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 22 32 12 0 66
CeGaT Center for Human Genetics Tuebingen 0 0 14 41 3 0 58
PreventionGenetics, part of Exact Sciences 0 0 7 29 7 0 43
Baylor Genetics 0 0 13 0 0 0 13
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
Fulgent Genetics, Fulgent Genetics 0 0 5 3 1 0 9
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 7 2 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
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 2 4 0 6
Revvity Omics, Revvity 0 0 5 0 0 0 5
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 4 0 0 0 4
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 0 3
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 3 3
OMIM 3 0 0 0 0 0 3
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 2 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Bionano Laboratories 1 0 0 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 0 1
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 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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