ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.*1077dup

dbSNP: rs768996194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386026 SCV000457615 uncertain significance Succinyl-CoA acetoacetate transferase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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