ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.873C>T (p.Cys291=) (rs372301183)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611599 SCV000728410 likely benign not specified 2017-02-01 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000714928 SCV000845694 benign Combined oxidative phosphorylation deficiency 14 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000714928 SCV001044465 likely benign Combined oxidative phosphorylation deficiency 14 2020-03-06 criteria provided, single submitter clinical testing

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