ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.6067T>C (p.Ser2023Pro)

gnomAD frequency: 0.00360  dbSNP: rs56042895
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000532280 SCV000604917 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000532280 SCV000655391 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2025-01-13 criteria provided, single submitter clinical testing

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