Submissions for variant NM_005045.4(RELN):c.4589-8T>G

gnomAD frequency: 0.01890  dbSNP: rs362801

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118151	SCV000152500	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224882	SCV000281211	benign	not provided	2015-06-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295571	SCV000465957	benign	Norman-Roberts syndrome	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001082790	SCV000656303	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000224882	SCV001894515	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing