ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe)

dbSNP: rs879255041
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237347 SCV000295687 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute, Western University RCV000237347 SCV000484743 likely pathogenic Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia RCV000237347 SCV001432595 pathogenic Hypercholesterolemia, familial, 1 2019-05-10 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237347 SCV000606527 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV001699252 SCV001924911 pathogenic not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699252 SCV001963163 pathogenic not provided no assertion criteria provided clinical testing

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