ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) (rs557128093)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Research, The Children's Hospital at Westmead RCV000851532 SCV001244722 likely pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency criteria provided, single submitter research
Elsea Laboratory,Baylor College of Medicine RCV000851532 SCV001424289 pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2020-04-01 criteria provided, single submitter clinical testing
GeneReviews RCV000851532 SCV000994605 pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2019-06-17 no assertion criteria provided literature only
OMIM RCV000851532 SCV001422322 pathogenic Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 2020-07-13 no assertion criteria provided literature only

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