ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) (rs879254572)

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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 RCV000237280 SCV000294788 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter research
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237280 SCV000503180 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3 , family members = 3 with co-segregation / Software predictions: Damaging
Fundacion Hipercolesterolemia Familiar RCV000237280 SCV000607473 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia RCV000237280 SCV001432611 pathogenic Familial hypercholesterolemia 1 2019-05-23 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237280 SCV000606157 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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