ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala)

dbSNP: rs1555576642
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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 RCV000578392 SCV000680210 likely pathogenic Combined oxidative phosphorylation defect type 17 2017-11-16 criteria provided, single submitter clinical testing

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