ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.264-108A>G

gnomAD frequency: 0.76777  dbSNP: rs6042362
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527302 SCV001738265 benign Mitochondrial complex 1 deficiency, nuclear type 16 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001615226 SCV001835453 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615226 SCV005312370 benign not provided criteria provided, single submitter not provided

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