ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.440T>C (p.Met147Thr)

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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 RCV003140551 SCV003807370 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2022-09-23 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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