ClinVar Miner

Submissions for variant NM_012123.4(MTO1):c.89_90dup (p.Ala31fs)

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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 RCV003225841 SCV003807792 likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 2022-10-29 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated

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