ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1672C>T (p.Gln558Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University RCV003333714 SCV003915431 pathogenic COG6-congenital disorder of glycosylation 2023-04-07 criteria provided, single submitter clinical testing

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