ClinVar Miner

Submissions for variant NM_001195798.2(LDLR):c.1019_1020delinsTG (p.Cys340Leu) (rs879254758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237320 SCV000295142 likely 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 RCV000237320 SCV000503280 pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing Index case (homozygote) = 1 , family members = 5 with co-segregation (2 homozygotes in the family)

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