ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.833C>T (p.Ala278Val)

gnomAD frequency: 0.00001  dbSNP: rs923554493
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336116 SCV001529422 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2018-06-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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