Submissions for variant NM_014467.3(SRPX2):c.693C>A (p.His231Gln)

gnomAD frequency: 0.00022  dbSNP: rs142719253

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724603	SCV000232264	uncertain significance	not provided	2015-03-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000724603	SCV000515824	likely benign	not provided	2020-11-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000179944	SCV000597275	likely benign	not specified	2016-08-12	criteria provided, single submitter	clinical testing
Invitae	RCV001083293	SCV000762466	likely benign	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	2022-11-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947532	SCV004763972	likely benign	SRPX2-related condition	2022-03-04	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724603	SCV001928201	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724603	SCV001964878	likely benign	not provided		no assertion criteria provided	clinical testing