Submissions for variant NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=)

gnomAD frequency: 0.00468  dbSNP: rs139219896

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000194103	SCV000167463	benign	not specified	2014-05-02	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.
Genetic Services Laboratory, University of Chicago	RCV000194103	SCV000248148	uncertain significance	not specified	2014-06-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000881776	SCV001024971	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001511	SCV001158817	benign	Mitochondrial complex 1 deficiency, nuclear type 16	2023-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001001511	SCV001737181	benign	Mitochondrial complex 1 deficiency, nuclear type 16	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000881776	SCV001748017	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	NDUFAF5: BP4, BS2
Natera, Inc.	RCV001276989	SCV001463719	likely benign	Mitochondrial complex I deficiency	2019-11-11	no assertion criteria provided	clinical testing