ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)

dbSNP: rs121908155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004967 SCV000025143 pathogenic DPM3-congenital disorder of glycosylation 2009-07-01 no assertion criteria provided literature only
Leiden Muscular Dystrophy (DPM3) RCV000004967 SCV000045750 not provided DPM3-congenital disorder of glycosylation 2012-04-20 no assertion provided curation

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