Submissions for variant NM_005045.4(RELN):c.7086C>T (p.Thr2362=)

gnomAD frequency: 0.00300  dbSNP: rs362747

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000263114	SCV000465931	likely benign	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001082330	SCV000656345	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000540528	SCV001145263	benign	not provided	2019-06-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000540528	SCV001889413	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118167	SCV000152519	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.
Clinical Genetics, Academic Medical Center	RCV000118167	SCV001917271	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000118167	SCV001967785	benign	not specified		no assertion criteria provided	clinical testing