Submissions for variant NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)

dbSNP: rs73714410

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000370216	SCV000465910	likely benign	Norman-Roberts syndrome	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000118175	SCV000514402	benign	not specified	2015-09-23	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515078	SCV000610848	likely benign	not provided	2017-04-19	criteria provided, single submitter	clinical testing
Invitae	RCV001084364	SCV000656381	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000515078	SCV000843481	benign	not provided	2019-05-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505046	SCV002811996	likely benign	Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2021-09-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118175	SCV000152531	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.