ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2311+2T>G

dbSNP: rs879255176
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238150 SCV000295943 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 RCV000238150 SCV000503480 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3 , family members = 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238150 SCV000583942 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000238150 SCV000607690 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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