ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del)

dbSNP: rs765961551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000844805 SCV000966080 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
Baylor Genetics RCV000844805 SCV004212827 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-08-24 criteria provided, single submitter clinical testing

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