ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)

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
Neurology Department, Peking University First Hospital RCV000855545 SCV000924627 pathogenic DPM3-congenital disorder of glycosylation 2019-06-23 no assertion criteria provided clinical testing
OMIM RCV001254823 SCV001430930 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 2020-08-25 no assertion criteria provided literature only

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