ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.192C>G (p.Ser64Arg)

dbSNP: rs1554169280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578287 SCV000680226 likely pathogenic Combined oxidative phosphorylation defect type 14 2017-11-15 criteria provided, single submitter clinical testing

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