Submissions for variant NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)

gnomAD frequency: 0.00372  dbSNP: rs118053940

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146093	SCV000193310	likely benign	not specified	2014-04-18	criteria provided, single submitter	clinical testing
Invitae	RCV001081553	SCV001107621	benign	D-2-hydroxyglutaric aciduria 2	2024-01-18	criteria provided, single submitter	clinical testing
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	RCV002467587	SCV002764247	uncertain significance	Enchondromatosis		criteria provided, single submitter	research
CeGaT Center for Human Genetics Tuebingen	RCV000676983	SCV004130891	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	IDH2: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003935245	SCV004751044	likely benign	IDH2-related disorder	2020-11-29	criteria provided, single submitter	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).
Mayo Clinic Laboratories, Mayo Clinic	RCV000676983	SCV000802810	likely benign	not provided	2016-02-26	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000676983	SCV001798438	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000676983	SCV001963932	likely benign	not provided		no assertion criteria provided	clinical testing