ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.319C>T (p.Arg107Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics,Faculty of Medicine, Istanbul University RCV001249579 SCV001423134 likely pathogenic Combined oxidative phosphorylation deficiency 12 2020-03-30 no assertion criteria provided clinical testing In compound heterozygous form with Pathogenic variant NM_001083614.2:c.1283delC

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