Submissions for variant NM_005045.4(RELN):c.6084C>T (p.Gly2028=)

gnomAD frequency: 0.00507  dbSNP: rs114019779

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081237	SCV000113145	benign	not specified	2013-08-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000081237	SCV000171348	benign	not specified	2014-03-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina	RCV000608429	SCV000465940	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.
Genetic Services Laboratory, University of Chicago	RCV000081237	SCV000596742	benign	not specified	2017-12-28	criteria provided, single submitter	clinical testing
Invitae	RCV001082417	SCV000656330	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000659083	SCV000780892	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	RELN: BP4, BP7, BS2
Athena Diagnostics Inc	RCV000081237	SCV001879970	benign	not specified	2020-10-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498426	SCV002810578	likely benign	Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2021-08-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608429	SCV000734535	likely benign	Norman-Roberts syndrome		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000081237	SCV001919783	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000659083	SCV001968051	likely benign	not provided		no assertion criteria provided	clinical testing