ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.414+3G>C

dbSNP: rs786204002
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000167580 SCV000218461 pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2014-11-01 no assertion criteria provided literature only

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