ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu) (rs142383658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001002072 SCV001030442 benign Succinyl-CoA acetoacetate transferase deficiency 2020-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002072 SCV001159909 likely benign Succinyl-CoA acetoacetate transferase deficiency 2018-07-12 criteria provided, single submitter clinical testing

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