ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.178-2A>G (rs1554059248)

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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,Klinikum rechts der Isar RCV000578463 SCV000680311 pathogenic Leigh syndrome 2017-11-08 criteria provided, single submitter clinical testing

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