ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.814del (p.Gln272fs)

dbSNP: rs2496631494
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474437 SCV004212905 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-07-21 criteria provided, single submitter clinical testing

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