ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.848C>G (p.Ser283Ter)

dbSNP: rs121909299
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008641 SCV000028850 pathogenic Succinyl-CoA acetoacetate transferase deficiency 1996-09-01 no assertion criteria provided literature only

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