Submissions for variant NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) (rs56342240)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000173031	SCV000113138	likely benign	not specified	2014-09-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173031	SCV000152497	likely benign	not specified	2017-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000081230	SCV000490765	likely benign	not provided	2020-10-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25648840, 26302956)
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000081230	SCV000609270	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000081230	SCV000614866	benign	not provided	2019-01-07	criteria provided, single submitter	clinical testing
Invitae	RCV001083944	SCV000656287	likely benign	Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7	2020-12-08	criteria provided, single submitter	clinical testing
Mendelics	RCV000987939	SCV001137433	benign	Norman-Roberts syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000987939	SCV001323865	likely benign	Norman-Roberts syndrome	2017-05-09	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.