ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) (rs587776497)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry RCV000144496 SCV000189814 probable-pathogenic Leigh syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000167581 SCV000218462 pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2015-02-01 no assertion criteria provided literature only

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