Submissions for variant NM_005045.4(RELN):c.6553A>T (p.Met2185Leu)

gnomAD frequency: 0.00010  dbSNP: rs114686696

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178533	SCV000230628	likely benign	not specified	2015-05-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534146	SCV000656339	likely benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-12-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163490	SCV001325537	likely 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 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	RCV001589055	SCV001815375	likely benign	not provided	2018-11-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500503	SCV002812031	likely benign	Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2021-10-18	criteria provided, single submitter	clinical testing