ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.905-1G>A

dbSNP: rs1298860043
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Total submissions: 1
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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 RCV000714949 SCV000845725 likely pathogenic Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing

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