ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.540G>A (p.Glu180=)

dbSNP: rs1593418085
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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 Molecular Medicine, Children’s Hospital of Fudan University RCV001030050 SCV001190575 likely pathogenic COG6-congenital disorder of glycosylation 2019-05-10 criteria provided, single submitter clinical testing

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