ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) (rs202110076)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492829 SCV000582096 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV001000256 SCV000655386 likely benign Immunodeficiency 26 with or without neurologic abnormalities 2020-11-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000492829 SCV001155423 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000256 SCV001156827 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2019-03-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV001000256 SCV001528652 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-03-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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