ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter)

dbSNP: rs1555404423
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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 RCV000578227 SCV000680294 pathogenic Combined oxidative phosphorylation defect type 15 2017-11-08 criteria provided, single submitter clinical testing

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