ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.313_313+1del (rs875989896)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211607 SCV000294601 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 RCV000211607 SCV000503130 pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2 , family members = 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211607 SCV000583653 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211607 SCV000599324 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000211607 SCV000987703 pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211607 SCV000268553 pathogenic Familial hypercholesterolemia 1 2008-07-09 no assertion criteria provided clinical testing

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