ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.60G>C (p.Arg20=)

gnomAD frequency: 0.00219  dbSNP: rs77311724
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173048 SCV000224127 uncertain significance not provided 2014-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086332 SCV001017178 benign Deficiency of acetyl-CoA acetyltransferase 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001086332 SCV001456954 likely benign Deficiency of acetyl-CoA acetyltransferase 2020-05-29 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003927577 SCV004751486 likely benign ACAT1-related disorder 2020-12-13 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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