Submissions for variant NM_005045.4(RELN):c.7114G>A (p.Val2372Met)

gnomAD frequency: 0.00046  dbSNP: rs114344654

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192007	SCV000152521	benign	not specified	2014-07-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000488215	SCV000230688	uncertain significance	not provided	2014-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000488215	SCV000575528	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000488215	SCV000617893	likely benign	not provided	2020-03-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26459092, 31623367)
Invitae	RCV000652988	SCV000774862	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001160110	SCV001321880	uncertain significance	Norman-Roberts syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.