Submissions for variant NM_024884.3(L2HGDH):c.840A>G (p.Pro280=)

gnomAD frequency: 0.01007  dbSNP: rs72683923

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519703	SCV001728621	benign	L-2-hydroxyglutaric aciduria	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000676575	SCV002575512	likely benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics	RCV000676575	SCV005290091	benign	not provided		criteria provided, single submitter	not provided
Athena Diagnostics	RCV000146253	SCV005621097	benign	not specified	2024-11-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000146253	SCV000193500	likely benign	not specified		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676575	SCV000802362	benign	not provided	2016-02-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927433	SCV004741751	benign	L2HGDH-related disorder	2019-09-10	no assertion criteria provided	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).