ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) (rs1437567292)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844798 SCV000966074 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research

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