ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.10626C>T (p.Phe3542=)

gnomAD frequency: 0.00579  dbSNP: rs8178231
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712213 SCV000518592 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551744 SCV000655358 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-29 criteria provided, single submitter clinical testing

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