ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.1100-18GT[8]

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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 RCV002620493 SCV003506846 benign Succinyl-CoA acetoacetate transferase deficiency 2021-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936602 SCV004750033 likely benign OXCT1-related disorder 2020-11-25 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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