ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.10684T>A (p.Leu3562Met) (rs8178232)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506229 SCV000604918 likely benign not specified 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV000557472 SCV000655359 benign Immunodeficiency 26 with or without neurologic abnormalities 2020-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001613335 SCV001841133 benign not provided 2018-09-27 criteria provided, single submitter clinical testing

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