ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.465C>A (p.Cys155Ter)

dbSNP: rs766094434
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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 RCV000237702 SCV000294729 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 RCV000237702 SCV000503165 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV000237702 SCV001653594 pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237702 SCV000606129 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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