ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) (rs1131692207)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000495937 SCV000606415 benign Familial hypercholesterolemia no assertion criteria provided research
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000495937 SCV000583828 likely pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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