Submissions for variant NM_005045.4(RELN):c.8843+3A>C

gnomAD frequency: 0.00029  dbSNP: rs200124755

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000513015	SCV000231351	uncertain significance	not provided	2014-06-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513015	SCV000609268	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	RELN: PP3, BS1
Fulgent Genetics, Fulgent Genetics	RCV000765901	SCV000897321	uncertain significance	Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084851	SCV001092080	likely benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-12-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000603899	SCV001323767	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197868	SCV001368651	uncertain significance	Familial temporal lobe epilepsy 7	2019-08-20	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Genetic Services Laboratory, University of Chicago	RCV001818442	SCV002069835	uncertain significance	not specified	2018-09-17	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000603899	SCV004806145	uncertain significance	Norman-Roberts syndrome	2024-03-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000513015	SCV005689786	uncertain significance	not provided	2024-08-05	criteria provided, single submitter	clinical testing	Reported previously in a patient with rolandic epilepsy/atypical rolandic epilepsy and not seen in a control cohort; however, no further clinical or segregation information was provided (PMID: 29358611); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 29358611, 37305761)
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000655999	SCV000588275	pathogenic	Self-limited epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	CAADphred>15