ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9217C>T (p.Leu3073Phe)

gnomAD frequency: 0.00292  dbSNP: rs55644332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722590 SCV000715729 likely benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000652385 SCV000774255 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-04 criteria provided, single submitter clinical testing

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