ClinVar Miner

Submissions for variant NM_014467.2(SRPX2):c.460C>G (p.His154Asp) (rs73636611)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424626 SCV000511397 likely benign not provided 2016-09-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000195094 SCV000171876 benign not specified 2013-02-20 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.
Genetic Services Laboratory, University of Chicago RCV000195094 SCV000249042 uncertain significance not specified 2014-10-08 criteria provided, single submitter clinical testing
Invitae RCV000474850 SCV000560174 benign Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 2017-10-12 criteria provided, single submitter clinical testing

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