Submissions for variant NM_014467.3(SRPX2):c.840G>A (p.Ala280=)

gnomAD frequency: 0.00118  dbSNP: rs139377205

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710230	SCV000113565	uncertain significance	not provided	2013-05-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000193138	SCV000249043	likely benign	not specified	2015-07-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000193138	SCV000514783	likely benign	not specified	2015-12-17	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.
Athena Diagnostics	RCV000710230	SCV000615509	benign	not provided	2018-01-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086107	SCV001007609	benign	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	2025-01-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952519	SCV004776075	likely benign	SRPX2-related disorder	2022-10-19	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).