ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.300G>T (p.Gly100=)

gnomAD frequency: 0.00009  dbSNP: rs140290234
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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 RCV001501558 SCV001706372 likely benign Succinyl-CoA acetoacetate transferase deficiency 2023-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900734 SCV004716933 likely benign OXCT1-related disorder 2021-04-20 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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