ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) (rs121918390)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV001177293 SCV001341469 likely benign Familial hypercholesterolemia 2019-03-11 criteria provided, single submitter clinical testing
OMIM RCV000019484 SCV000039781 pathogenic Familial hypobetalipoproteinemia 1988-11-01 no assertion criteria provided literature only
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan RCV001027451 SCV001190019 likely pathogenic Hypobetalipoproteinemia, familial, 1 2018-12-01 no assertion criteria provided case-control

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