Submissions for variant NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)

gnomAD frequency: 0.04510  dbSNP: rs11553595

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124685	SCV000168119	benign	not specified	2012-05-01	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001507	SCV001158810	benign	Pyruvate dehydrogenase E2 deficiency	2023-11-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001001507	SCV001717469	benign	Pyruvate dehydrogenase E2 deficiency	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001001507	SCV001876765	benign	Pyruvate dehydrogenase E2 deficiency	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676206	SCV005231582	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676206	SCV000801959	benign	not provided	2016-02-22	no assertion criteria provided	clinical testing