ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)

gnomAD frequency: 0.00001  dbSNP: rs397514611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000033045 SCV000845715 likely pathogenic Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
OMIM RCV000033045 SCV000056825 pathogenic Combined oxidative phosphorylation defect type 14 2012-10-15 no assertion criteria provided literature only

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