ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg)

dbSNP: rs1555575927
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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 RCV000578302 SCV000680209 likely pathogenic Combined oxidative phosphorylation defect type 17 2017-11-16 criteria provided, single submitter clinical testing

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