Submissions for variant NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=)

gnomAD frequency: 0.00272  dbSNP: rs150357327

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000292584	SCV000337371	likely benign	not specified	2015-11-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000898874	SCV001043108	benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000292584	SCV001476116	benign	not specified	2024-05-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502118	SCV002804454	likely benign	Episodic ataxia type 6	2022-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000898874	SCV004160856	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	SLC1A3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000898874	SCV005259772	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004755841	SCV005346735	likely benign	SLC1A3-related disorder	2024-08-07	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).