ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.624G>A (p.Pro208=)

gnomAD frequency: 0.00016  dbSNP: rs139514583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427196 SCV000514782 benign not specified 2015-07-10 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 RCV000427196 SCV000597271 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001400965 SCV001602776 likely benign Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2022-02-04 criteria provided, single submitter clinical testing

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