ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.108C>A (p.Asp36Glu) (rs373144619)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238476 SCV000294469 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238476 SCV000606016 benign Familial hypercholesterolemia no assertion criteria provided research

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