Submissions for variant NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)

gnomAD frequency: 0.00098  dbSNP: rs362800

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712913	SCV000229718	uncertain significance	not provided	2015-02-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177786	SCV000596744	uncertain significance	not specified	2017-01-13	criteria provided, single submitter	clinical testing
Invitae	RCV001088748	SCV000656312	likely benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000177786	SCV000843465	likely benign	not specified	2019-05-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000712913	SCV001793344	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29671837)
Ambry Genetics	RCV002517721	SCV003702728	likely benign	Inborn genetic diseases	2021-12-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291197	SCV001479622	likely pathogenic	Lissencephaly		no assertion criteria provided	research