Submissions for variant NM_014467.3(SRPX2):c.1293C>T (p.Tyr431=)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 4

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128287	SCV000171879	benign	not specified	2014-03-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084982	SCV000560175	benign	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	2024-02-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000128287	SCV000597272	likely benign	not specified	2017-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000459427	SCV001145808	benign	not provided	2018-09-18	criteria provided, single submitter	clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.