Submissions for variant NM_005045.4(RELN):c.6078C>T (p.Asn2026=)

gnomAD frequency: 0.00635  dbSNP: rs79610081

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195125	SCV000248708	benign	not specified	2016-09-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000615435	SCV000465942	benign	Norman-Roberts syndrome	2018-01-13	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.
GeneDx	RCV000712915	SCV000518211	benign	not provided	2018-06-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082791	SCV000656329	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712915	SCV000843469	benign	not provided	2018-05-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000712915	SCV005270566	benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712915	SCV005876907	benign	not provided	2024-06-28	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000615435	SCV000734536	likely benign	Norman-Roberts syndrome		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000195125	SCV001919378	benign	not specified		no assertion criteria provided	clinical testing