ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.2040A>G (p.Ile680Met)

gnomAD frequency: 0.01119  dbSNP: rs8178040
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000426828 SCV000511297 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082081 SCV000655370 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000426828 SCV001881145 benign not provided 2018-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000426828 SCV005265545 benign not provided criteria provided, single submitter not provided

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