ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.11G>A (p.Trp4Ter) (rs201016593)

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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 RCV000237276 SCV000294413 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237276 SCV000503091 pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2 , family members =4 with co-segregation / FH-Nianjing
Fundacion Hipercolesterolemia Familiar RCV000237276 SCV000607402 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000237276 SCV000748034 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237276 SCV000605996 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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