ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.1225C>T (p.Gln409Ter)

dbSNP: rs2137688022
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002226802 SCV002505656 likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria no assertion criteria provided clinical testing

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