ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=)

gnomAD frequency: 0.00104  dbSNP: rs150955045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724562 SCV000232298 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000179971 SCV000519992 likely benign not specified 2016-07-26 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 RCV000724562 SCV001055244 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276992 SCV001463722 uncertain significance Mitochondrial complex I deficiency 2020-01-24 no assertion criteria provided clinical testing

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