ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)

gnomAD frequency: 0.00001  dbSNP: rs397514612
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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 RCV000033046 SCV000845718 likely pathogenic Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
OMIM RCV000033046 SCV000056826 pathogenic Combined oxidative phosphorylation defect type 14 2012-10-15 no assertion criteria provided literature only

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