ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.10211G>A (p.Gly3404Glu) (rs8178225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432764 SCV000516911 likely benign not specified 2018-02-12 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000558116 SCV000604919 benign Immunodeficiency 26 with or without neurologic abnormalities 2018-07-13 criteria provided, single submitter clinical testing
Invitae RCV000558116 SCV000655356 benign Immunodeficiency 26 with or without neurologic abnormalities 2020-12-01 criteria provided, single submitter clinical testing

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