ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9337-5_9337-4del

dbSNP: rs11311765
Minimum review status: Collection method:
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 RCV001657377 SCV001870054 benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477869 SCV002794559 likely benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-09-17 criteria provided, single submitter clinical testing

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