ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1884T>G (p.Tyr628Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV003777335 SCV004028464 pathogenic COG6-congenital disorder of glycosylation 2022-01-10 no assertion criteria provided clinical testing Lethal phenotype

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