ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.407C>A (p.Pro136His) (rs199863563)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542910 SCV000652842 likely benign Combined oxidative phosphorylation deficiency 14 2020-10-14 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000542910 SCV000845676 uncertain significance Combined oxidative phosphorylation deficiency 14 2018-06-13 criteria provided, single submitter clinical testing

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