ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.10211G>A (p.Gly3404Glu)

gnomAD frequency: 0.01210  dbSNP: rs8178225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432764 SCV000516911 likely benign not specified 2018-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000558116 SCV000604919 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558116 SCV000655356 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2025-02-03 criteria provided, single submitter clinical testing

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