ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1681C>T (p.Gln561Ter) (rs879254981)

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Total submissions: 6
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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 RCV000238180 SCV000599377 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter curation
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238180 SCV000503382 pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 9 , family member = 1 with co-segregation
LDLR-LOVD, British Heart Foundation RCV000238180 SCV000295571 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238180 SCV000606479 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Robarts Research Institute,Western University RCV000238180 SCV000782921 pathogenic Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238180 SCV000583860 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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