ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) (rs730882108)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256343 SCV000322959 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/184 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 RCV000256343 SCV000503368 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family members = 4 with co-segregation (mild phenotype)/Software predictions: Conflicting
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256343 SCV000588592 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000256343 SCV000607608 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161996 SCV000189571 not provided not provided no assertion provided in vitro

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