ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.444G>T (p.Met148Ile)

gnomAD frequency: 0.00001  dbSNP: rs752225756
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Elsea Laboratory, Baylor College of Medicine RCV001250099 SCV001424290 uncertain significance Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2020-04-01 criteria provided, single submitter clinical testing

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