Submissions for variant NM_006567.5(FARS2):c.737C>T (p.Thr246Met)

gnomAD frequency: 0.00455  dbSNP: rs116567033

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124982	SCV000168422	benign	not specified	2014-04-02	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	RCV000527403	SCV000652852	benign	Combined oxidative phosphorylation defect type 14	2024-01-31	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000527403	SCV000845689	likely benign	Combined oxidative phosphorylation defect type 14	2018-06-13	criteria provided, single submitter	clinical testing
Mendelics	RCV000527403	SCV001137051	likely benign	Combined oxidative phosphorylation defect type 14	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000677019	SCV001154616	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	FARS2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000677019	SCV005222709	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000677019	SCV000802852	uncertain significance	not provided	2016-02-23	no assertion criteria provided	clinical testing