Submissions for variant NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)

gnomAD frequency: 0.00361  dbSNP: rs2229860

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118154	SCV000152503	benign	not specified	2016-08-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000118154	SCV000229717	benign	not specified	2015-03-26	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000427416	SCV000511111	likely benign	not provided	2016-09-15	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000427416	SCV000514396	benign	not provided	2019-12-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19435634, 25648840, 17366345, 16311013)
CeGaT Center for Human Genetics Tuebingen	RCV000427416	SCV000575529	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	RELN: BS2
Invitae	RCV001081934	SCV000656309	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163589	SCV001325646	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics Inc	RCV000118154	SCV001474655	benign	not specified	2020-07-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000118154	SCV001922996	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000427416	SCV001971927	likely benign	not provided		no assertion criteria provided	clinical testing