ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1045del (p.Gln349fs) (rs879254765)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238091 SCV000295158 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 RCV000238091 SCV000503286 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3
Fundacion Hipercolesterolemia Familiar RCV000238091 SCV000607548 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research

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