ClinVar Miner

Submissions for variant NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs)

dbSNP: rs1598367619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000984082 SCV000995082 pathogenic Mitochondrial disease 2019-10-09 criteria provided, single submitter clinical testing
OMIM RCV001003491 SCV001161787 pathogenic Mitochondrial complex 1 deficiency, nuclear type 34 2020-02-19 no assertion criteria provided literature only

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