ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile)

gnomAD frequency: 0.00070  dbSNP: rs56080897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652368 SCV000774238 likely benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2025-01-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788250 SCV000927301 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000788250 SCV001929291 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000788250 SCV001966888 likely benign not provided no assertion criteria provided clinical testing

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