ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.694+2T>C (rs200238879)

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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 RCV000003936 SCV000294919 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 RCV000003936 SCV000503226 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family member = 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000003936 SCV000583730 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000003936 SCV000607495 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
OMIM RCV000003936 SCV000024101 pathogenic Familial hypercholesterolemia 1 1997-01-01 no assertion criteria provided literature only

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