ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1705+1G>T

dbSNP: rs875989926
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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 RCV000237724 SCV000295593 likely pathogenic Hypercholesterolemia, familial, 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 RCV000237724 SCV000503392 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237724 SCV000599384 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000237724 SCV001366193 pathogenic Hypercholesterolemia, familial, 1 2020-01-30 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PS3,PM2.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237724 SCV000606490 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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