ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.547_549del (p.Ile183del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002776567 SCV003035487 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2022-08-25 criteria provided, single submitter clinical testing

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