Submissions for variant NM_005045.4(RELN):c.5775A>G (p.Arg1925=)

gnomAD frequency: 0.00464  dbSNP: rs2711866

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118158	SCV000152507	benign	not specified	2017-11-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405648	SCV000465945	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.
Athena Diagnostics Inc	RCV000118158	SCV000614871	benign	not specified	2016-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV000539813	SCV000656322	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001689656	SCV001906564	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001689656	SCV004701455	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	RELN: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003925155	SCV004747091	benign	RELN-related condition	2022-03-18	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).
Clinical Genetics, Academic Medical Center	RCV001689656	SCV001918937	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118158	SCV001967549	benign	not specified		no assertion criteria provided	clinical testing