ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)

gnomAD frequency: 0.00006  dbSNP: rs761989177
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988462 SCV001138188 pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2019-05-28 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000988462 SCV002764678 pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2020-11-10 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000988462 SCV003807981 likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2022-06-28 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 moderated, PM2 moderated, PM3 moderated
CeGaT Center for Human Genetics Tuebingen RCV003883525 SCV004701958 likely pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing ECHS1: PM3:Strong, PM2, PP3
OMIM RCV000988462 SCV001422321 pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2021-08-12 no assertion criteria provided literature only

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