Submissions for variant NM_005045.4(RELN):c.8046T>C (p.His2682=)

gnomAD frequency: 0.49951  dbSNP: rs2229864

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081242	SCV000113150	benign	not specified	2012-07-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081242	SCV000310801	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000613774	SCV000465922	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	RCV000712922	SCV000843477	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Invitae	RCV001513950	SCV001721660	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000712922	SCV001912791	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000613774	SCV002033541	benign	Norman-Roberts syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081242	SCV000152524	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613774	SCV000734533	benign	Norman-Roberts syndrome		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081242	SCV001920789	benign	not specified		no assertion criteria provided	clinical testing