ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) (rs745692004)

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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 RCV000855549 SCV000924628 likely pathogenic Congenital disorder of glycosylation type 1O 2019-06-23 no assertion criteria provided clinical testing
OMIM RCV001254824 SCV001430931 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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