Submissions for variant NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)

gnomAD frequency: 0.00884  dbSNP: rs35302908

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126842	SCV000170371	benign	not specified	2014-02-09	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	RCV000967366	SCV001114747	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197773	SCV001368552	benign	Combined oxidative phosphorylation defect type 15	2018-11-08	criteria provided, single submitter	clinical testing	This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
CeGaT Center for Human Genetics Tuebingen	RCV000967366	SCV004132679	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	MTFMT: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000967366	SCV005292483	benign	not provided		criteria provided, single submitter	not provided