ClinVar Miner

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

gnomAD frequency: 0.01707  dbSNP: rs117002283
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Total submissions: 6
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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.
Invitae RCV000676286 SCV001732041 benign not provided 2024-01-31 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
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

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