Submissions for variant NM_005045.4(RELN):c.906C>T (p.Ala302=)

gnomAD frequency: 0.00287  dbSNP: rs114494558

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173809	SCV000224961	benign	not specified	2014-07-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000173809	SCV000514389	likely benign	not specified	2017-03-28	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.
Genetic Services Laboratory, University of Chicago	RCV000173809	SCV000596748	likely benign	not specified	2016-01-05	criteria provided, single submitter	clinical testing
Invitae	RCV000545530	SCV000656371	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965250	SCV004792347	benign	RELN-related condition	2019-05-02	criteria provided, single submitter	clinical testing	This variant is classified as 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	RCV001701777	SCV001929355	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701777	SCV001973681	likely benign	not provided		no assertion criteria provided	clinical testing