ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln)

gnomAD frequency: 0.00133  dbSNP: rs146051561
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000189564 SCV000152814 benign not specified 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001704027 SCV000243207 benign not provided 2019-11-05 criteria provided, single submitter clinical testing
Invitae RCV001087770 SCV000639906 likely benign Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2022-09-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000189564 SCV000856639 likely benign not specified 2017-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945058 SCV004757209 likely benign SRPX2-related condition 2023-06-07 criteria provided, single submitter 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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