ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.79-22dup

dbSNP: rs748715820
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287009 SCV000457639 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000287009 SCV002341018 benign Succinyl-CoA acetoacetate transferase deficiency 2024-01-22 criteria provided, single submitter clinical testing

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