ClinVar Miner

Variants in gene PRKDC

Minimum submission review status: Collection method:
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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 total
4 1 496 223 61 759

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Immunodeficiency 26 with or without neurologic abnormalities 2 0 478 164 53 693
not provided 1 1 20 54 4 79
not specified 0 0 1 28 16 45
Microcephaly 0 0 4 0 0 4
Immunodeficiency 26 without neurologic abnormalities 1 0 0 0 0 1
Malignant tumor of breast 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 466 197 56 719
GeneDx 0 1 6 29 15 51
Baylor Genetics 0 0 14 0 0 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 1 2 6
Blueprint Genetics 0 0 6 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 2
Lineagen, Inc 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 0 1 1

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