ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=)

gnomAD frequency: 0.00010  dbSNP: rs189680139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425668 SCV000533126 likely benign not specified 2016-11-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000882339 SCV001025572 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2025-01-30 criteria provided, single submitter clinical testing

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