ClinVar Miner

Submissions for variant NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) (rs752513525)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
INSERM U1051,Institut des Neurosciences de Montpellier RCV000239442 SCV000153676 pathogenic Mitochondrial complex I deficiency 2014-05-01 no assertion criteria provided research
OMIM RCV000735414 SCV000611546 pathogenic MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 2018-12-13 no assertion criteria provided literature only

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