ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) (rs111400494)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235739 SCV000292662 benign not specified 2017-12-27 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000235739 SCV000333624 benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268718 SCV000358777 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488190 SCV000574738 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Invitae RCV000488190 SCV000646071 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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