ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.78+10dup

dbSNP: rs368390833
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000407930 SCV000457641 likely benign Succinyl-CoA acetoacetate transferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000407930 SCV001732404 benign Succinyl-CoA acetoacetate transferase deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000078823 SCV001913760 benign not provided 2021-06-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000078823 SCV000110683 uncertain significance not provided 2012-10-02 no assertion criteria provided clinical testing

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