Submissions for variant NM_005045.4(RELN):c.1144-15T>C

gnomAD frequency: 0.00025  dbSNP: rs2301560

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193350	SCV000248692	uncertain significance	not specified	2013-05-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001164074	SCV001326170	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057013	SCV002361611	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430748	SCV004155702	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	RELN: BS1, BS2