Submissions for variant NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)

gnomAD frequency: 0.00041  dbSNP: rs149837553

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724932	SCV000332513	uncertain significance	not provided	2015-07-23	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000263398	SCV000614872	uncertain significance	not specified	2017-04-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000554707	SCV000656323	benign	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2025-02-04	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000554707	SCV000782649	uncertain significance	Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2017-05-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765908	SCV000897328	uncertain significance	Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	2021-07-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519092	SCV003691153	uncertain significance	Inborn genetic diseases	2022-12-28	criteria provided, single submitter	clinical testing	The c.5822T>C (p.V1941A) alteration is located in exon 39 (coding exon 39) of the RELN gene. This alteration results from a T to C substitution at nucleotide position 5822, causing the valine (V) at amino acid position 1941 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000724932	SCV003917541	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	RELN: BP4, BS1