ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.127C>T (p.Arg43Cys) (rs121918399)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center,Zhengzhou University RCV000019468 SCV001593020 likely pathogenic Lipoprotein glomerulopathy criteria provided, single submitter research PM2:at extremely low frequency in gnomAD PP2:Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product PP4:Patient's phenotype is highly specific for a disease
OMIM RCV000019468 SCV000039758 pathogenic Lipoprotein glomerulopathy 2007-12-13 no assertion criteria provided literature only

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