Submissions for variant NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)

gnomAD frequency: 0.00018  dbSNP: rs115035120

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500411	SCV000596757	uncertain significance	not specified	2016-07-08	criteria provided, single submitter	clinical testing
Invitae	RCV001084734	SCV000656252	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2023-12-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000841019	SCV000982975	likely benign	not provided	2018-03-23	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.
Illumina Laboratory Services, Illumina	RCV001163270	SCV001325293	likely benign	Norman-Roberts syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001253210	SCV001428815	uncertain significance	Familial temporal lobe epilepsy 7	2019-03-22	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000500411	SCV001879969	benign	not specified	2021-03-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000841019	SCV004155651	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	RELN: BP4, BS2
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000655997	SCV000588273	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15