Submissions for variant NM_005045.4(RELN):c.9321C>T (p.Leu3107=)

gnomAD frequency: 0.00218  dbSNP: rs150387973

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179193	SCV000231400	benign	not specified	2015-04-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000546450	SCV000656374	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001158646	SCV001320298	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001707550	SCV001935017	likely benign	not provided	2021-02-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001707550	SCV004701456	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	RELN: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001707550	SCV005228434	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004537482	SCV004746191	benign	RELN-related disorder	2021-06-25	no assertion criteria provided	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).