ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.22C>T (p.Leu8=)

gnomAD frequency: 0.00009  dbSNP: rs775668624
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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 RCV001446143 SCV001649186 likely benign Deficiency of acetyl-CoA acetyltransferase 2023-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892175 SCV004716599 likely benign ACAT1-related disorder 2023-07-27 criteria provided, single submitter 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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