ClinVar Miner

Submissions for variant NM_005138.3(SCO2):c.2T>C (p.Met1Thr)

dbSNP: rs1603441682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000985024 SCV001438821 likely pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985024 SCV001132957 pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 2019-08-25 no assertion criteria provided clinical testing

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