ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.6951C>T (p.Ala2317=)

gnomAD frequency: 0.00106  dbSNP: rs114463099
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
Invitae RCV001512510 SCV001719940 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424460 SCV004157600 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PRKDC: BP4, BP7

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