ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-187_-185del (rs1270618112)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505217 SCV000599296 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter curation
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000505217 SCV000605982 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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