ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)

gnomAD frequency: 0.00059  dbSNP: rs191531119
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000788153 SCV000516381 likely benign not provided 2019-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083304 SCV000655377 likely benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2025-02-02 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788153 SCV000927175 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000788153 SCV004155779 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing PRKDC: BP4
PreventionGenetics, part of Exact Sciences RCV003922727 SCV004740571 benign PRKDC-related disorder 2022-11-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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