ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) (rs373847965)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436301 SCV000518228 likely benign not specified 2015-08-07 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 RCV000436301 SCV000703135 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000990912 SCV000762469 likely benign Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990912 SCV001141965 likely benign Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 2019-05-28 criteria provided, single submitter clinical testing

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