ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253738 SCV001429596 likely pathogenic Congenital disorder of glycosylation type 1t 2019-02-16 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001253738 SCV001554496 pathogenic Congenital disorder of glycosylation type 1t criteria provided, single submitter clinical testing

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