ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)

dbSNP: rs774467219
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237514 SCV000294573 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237514 SCV000322884 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research 0/208 non-FH alleles; 0/60 healthy control individuals
Fundacion Hipercolesterolemia Familiar RCV000237514 SCV000607438 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000237514 SCV000748110 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237514 SCV000606060 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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