ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) (rs150807400)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000421448 SCV000226667 uncertain significance not provided 2015-02-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421448 SCV000510647 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000175222 SCV000521922 likely benign not specified 2018-03-01 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.
Invitae RCV001078661 SCV000646013 likely benign Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c 2019-12-31 criteria provided, single submitter clinical testing

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