ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1033C>T (p.Gln345Ter) (rs875989913)

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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 RCV000211644 SCV000295153 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211644 SCV000322923 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000211644 SCV000503284 pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3 , family member = 1 with co-segregation / previously described in association with FH
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000211644 SCV000588542 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211644 SCV000268594 pathogenic Familial hypercholesterolemia 2008-07-22 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211644 SCV000606297 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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