ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.239-9_239-8del

dbSNP: rs201199156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002193822 SCV002489228 benign Deficiency of acetyl-CoA acetyltransferase 2023-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003916363 SCV004733658 likely benign ACAT1-related disorder 2019-09-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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