Submissions for variant NM_005045.4(RELN):c.2125A>G (p.Met709Val)

gnomAD frequency: 0.00018  dbSNP: rs114577182

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175317	SCV000226788	uncertain significance	not provided	2014-07-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000810122	SCV000895798	uncertain significance	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2024-05-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000810122	SCV000950311	likely benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2025-01-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000175317	SCV001249277	uncertain significance	not provided	2024-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002516672	SCV003711946	uncertain significance	Inborn genetic diseases	2022-02-10	criteria provided, single submitter	clinical testing	The c.2125A>G (p.M709V) alteration is located in exon 18 (coding exon 18) of the RELN gene. This alteration results from a A to G substitution at nucleotide position 2125, causing the methionine (M) at amino acid position 709 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, University Hospital of Duesseldorf	RCV003458196	SCV004177251	uncertain significance	Familial temporal lobe epilepsy 7		criteria provided, single submitter	not provided