ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.606G>A (p.Lys202=) (rs17851782)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124981 SCV000168421 benign not specified 2014-04-16 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 RCV000560762 SCV000652849 likely benign Combined oxidative phosphorylation deficiency 14 2020-12-04 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000560762 SCV000845684 benign Combined oxidative phosphorylation deficiency 14 2018-06-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171979 SCV001334902 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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