ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.564C>T (p.His188=)

gnomAD frequency: 0.00015  dbSNP: rs149317696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443259 SCV000533772 likely benign not provided 2020-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498408 SCV001703158 likely benign Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2022-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932677 SCV004753578 likely benign SRPX2-related disorder 2019-11-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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