ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2547+1G>A (rs879255224)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237756 SCV000296031 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237756 SCV000323015 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/188 non-FH alleles
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237756 SCV000606667 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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