ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)

dbSNP: rs2077742350
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278348 SCV001465353 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2020-08-14 no assertion criteria provided clinical testing

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