ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.660C>T (p.Asn220=)

gnomAD frequency: 0.00215  dbSNP: rs148089241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973773 SCV001121548 benign Succinyl-CoA acetoacetate transferase deficiency 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716648 SCV005298202 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003936175 SCV004753369 likely benign OXCT1-related disorder 2024-04-17 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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