ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs)

dbSNP: rs387906302
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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 RCV000003895 SCV000296012 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 RCV000003895 SCV000503491 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 15 , family members = 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000003895 SCV000583954 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256974 SCV001433519 pathogenic not provided 2020-02-18 criteria provided, single submitter clinical testing
OMIM RCV000003895 SCV000024060 pathogenic Hypercholesterolemia, familial, 1 1990-01-01 no assertion criteria provided literature only

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