ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) (rs879254426)

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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 RCV000237105 SCV000294498 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000237105 SCV000484719 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237105 SCV000503108 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 4 , family member = 1 with co-segregation / Software predictions: Damaging
Fundacion Hipercolesterolemia Familiar RCV000237105 SCV000607424 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 RCV000237105 SCV001432597 pathogenic Familial hypercholesterolemia 1 2019-05-11 criteria provided, single submitter research

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