Submissions for variant NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)

gnomAD frequency: 0.00315  dbSNP: rs115954396

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180689	SCV000233168	benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing
Invitae	RCV000989217	SCV001113735	benign	L-2-hydroxyglutaric aciduria	2024-01-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000989217	SCV001139446	benign	L-2-hydroxyglutaric aciduria	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000966416	SCV001144392	benign	not provided	2018-09-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000180689	SCV002067620	likely benign	not specified	2019-07-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000966416	SCV004134092	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	L2HGDH: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003937644	SCV004748893	benign	L2HGDH-related condition	2020-01-13	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).