ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr)

dbSNP: rs2135334430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001647335 SCV001737525 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2021-03-06 criteria provided, single submitter research

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