ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.621C>T (p.Gly207=) (rs121908044)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000003945 SCV000294826 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000003945 SCV000503190 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 5, family member = 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000003945 SCV000583711 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000003945 SCV000599336 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Iberoamerican FH Network RCV000003945 SCV000748131 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
OMIM RCV000003945 SCV000024110 pathogenic Familial hypercholesterolemia 1 2008-06-01 no assertion criteria provided literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000003945 SCV000606170 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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