ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.1099+17C>G

gnomAD frequency: 0.00303  dbSNP: rs78253456
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510836 SCV001717977 benign Succinyl-CoA acetoacetate transferase deficiency 2023-12-25 criteria provided, single submitter clinical testing

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