ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) (rs397515423)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032991 SCV000056770 pathogenic Congenital disorder of glycosylation type 1t 2012-10-01 no assertion criteria provided literature only

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