ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) (rs104893898)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000578296 SCV000680312 pathogenic Mitochondrial complex I deficiency 2017-11-15 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000735424 SCV001426440 pathogenic Mitochondrial complex I deficiency, nuclear type 1 criteria provided, single submitter clinical testing
OMIM RCV000735424 SCV000027488 pathogenic Mitochondrial complex I deficiency, nuclear type 1 2000-08-18 no assertion criteria provided literature only

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