Submissions for variant NM_001931.5(DLAT):c.570A>G (p.Gln190=)

gnomAD frequency: 0.00160  dbSNP: rs143107853

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124684	SCV000168118	benign	not specified	2013-01-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000124684	SCV000340952	likely benign	not specified	2016-04-21	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000603990	SCV000745136	likely benign	Pyruvate dehydrogenase E2 deficiency	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000603990	SCV001121734	benign	Pyruvate dehydrogenase E2 deficiency	2024-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003390813	SCV004133304	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DLAT: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV003390813	SCV005217606	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603990	SCV000732997	likely benign	Pyruvate dehydrogenase E2 deficiency		no assertion criteria provided	clinical testing