ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)

dbSNP: rs551747280
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211620 SCV000294456 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Genetics and Molecular Pathology, SA Pathology RCV000211620 SCV004175362 likely pathogenic Hypercholesterolemia, familial, 1 2021-11-01 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211620 SCV000268539 pathogenic Hypercholesterolemia, familial, 1 2013-07-10 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000211620 SCV000606009 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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