ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.9145C>T (p.Leu3049=)

gnomAD frequency: 0.00669  dbSNP: rs56053523
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443361 SCV000518624 likely benign not specified 2016-10-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000527389 SCV000655402 benign Severe combined immunodeficiency due to DNA-PKcs deficiency 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430985 SCV004157594 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing PRKDC: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003430985 SCV005223527 likely benign not provided criteria provided, single submitter not provided

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