Submissions for variant NM_005045.4(RELN):c.8843+7G>C

gnomAD frequency: 0.98938  dbSNP: rs2711885

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081246	SCV000113154	benign	not specified	2014-06-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081246	SCV000310808	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000614202	SCV000465915	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	RCV000712924	SCV000843479	benign	not provided	2018-05-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513949	SCV001721659	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000712924	SCV001897000	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000614202	SCV002033540	benign	Norman-Roberts syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712924	SCV005270533	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081246	SCV000152529	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	RCV000614202	SCV000734530	benign	Norman-Roberts syndrome		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081246	SCV001918696	benign	not specified		no assertion criteria provided	clinical testing