ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.7083T>C (p.Ile2361=)

gnomAD frequency: 0.00001  dbSNP: rs1241908273
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002146911 SCV002418903 likely benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-05-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707766 SCV005223534 likely benign not provided criteria provided, single submitter not provided

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