Submissions for variant NM_006567.5(FARS2):c.183C>T (p.Asp61=)

gnomAD frequency: 0.00156  dbSNP: rs73718082

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247463	SCV000311534	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000247463	SCV000512975	benign	not specified	2015-09-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000554418	SCV000652840	benign	Combined oxidative phosphorylation defect type 14	2025-02-02	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000554418	SCV000845670	benign	Combined oxidative phosphorylation defect type 14	2018-06-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422171	SCV004160252	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	FARS2: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003422171	SCV005875742	benign	not provided	2023-12-22	criteria provided, single submitter	clinical testing