ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2389+5G>A (rs879255191)

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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 RCV000237473 SCV000295976 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237473 SCV000606637 benign Familial hypercholesterolemia no assertion criteria provided research
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237473 SCV000540867 pathogenic Familial hypercholesterolemia 2016-11-05 criteria provided, single submitter clinical testing

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