ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.263+81T>G

gnomAD frequency: 0.17325  dbSNP: rs6042361
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833167 SCV000974926 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001527301 SCV001738264 benign Mitochondrial complex 1 deficiency, nuclear type 16 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833167 SCV005312368 benign not provided criteria provided, single submitter not provided

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