Submissions for variant NM_005045.4(RELN):c.877G>A (p.Asp293Asn)

gnomAD frequency: 0.00033  dbSNP: rs200289289

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000532150	SCV000536509	likely benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000422155	SCV000596765	uncertain significance	not specified	2015-08-25	criteria provided, single submitter	clinical testing
Invitae	RCV001084733	SCV000656367	likely benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000532150	SCV001155213	uncertain significance	not provided	2021-12-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001159160	SCV001320848	uncertain significance	Norman-Roberts syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002522719	SCV003560995	uncertain significance	Inborn genetic diseases	2021-07-20	criteria provided, single submitter	clinical testing	Unlikely to be causative of RELN-related lateral temporal epilepsy (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003925304	SCV004751443	likely benign	RELN-related condition	2022-03-01	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000532150	SCV001963147	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000532150	SCV001975478	uncertain significance	not provided		no assertion criteria provided	clinical testing