ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.577A>G (p.Thr193Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142373 SCV003807946 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 16 2022-12-30 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM3 moderated, PP3 supporting

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