Submissions for variant NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)

gnomAD frequency: 0.00019  dbSNP: rs373847965

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000436301	SCV000518228	likely benign	not specified	2015-08-07	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.
Eurofins Ntd Llc (ga)	RCV000436301	SCV000703135	likely benign	not specified	2016-11-21	criteria provided, single submitter	clinical testing
Invitae	RCV000990912	SCV000762469	likely benign	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	2023-10-03	criteria provided, single submitter	clinical testing
Mendelics	RCV000990912	SCV001141965	likely benign	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706627	SCV004167230	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	SRPX2: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706627	SCV001931497	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706627	SCV001966984	likely benign	not provided		no assertion criteria provided	clinical testing