ClinVar Miner

Submissions for variant NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) (rs5030865)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734671 SCV000862828 other not provided 2018-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000734671 SCV000977562 likely benign not provided 2018-04-12 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.
OMIM RCV000018388 SCV000038670 drug response Debrisoquine, poor metabolism of 1995-11-01 no assertion criteria provided literature only

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