ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1054G>A (p.Val352Met)

gnomAD frequency: 0.00005  dbSNP: rs772734060
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001312916 SCV001503390 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-08-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001312916 SCV001527508 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2018-04-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV003458000 SCV004184723 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing PRKDC: PM2, BP4

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