Submissions for variant NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=)

gnomAD frequency: 0.01707  dbSNP: rs117002283

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000117708	SCV000167460	benign	not specified	2012-05-03	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	RCV000676286	SCV001732041	benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527303	SCV001738266	benign	Mitochondrial complex 1 deficiency, nuclear type 16	2021-06-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676286	SCV005312372	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117708	SCV000151955	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic	RCV000676286	SCV000802042	benign	not provided	2016-02-29	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001275554	SCV001460794	benign	Leigh syndrome	2020-09-16	no assertion criteria provided	clinical testing