ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.2083C>T (p.Pro695Ser)

gnomAD frequency: 0.01166  dbSNP: rs8178046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442161 SCV000516417 benign not specified 2016-09-13 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 RCV000530810 SCV000655371 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712789 SCV005265544 benign not provided criteria provided, single submitter not provided

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