ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.501C>G (p.Cys167Trp)

dbSNP: rs752596535
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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 RCV000237146 SCV000294745 likely 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 RCV000237146 SCV000503168 likely pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2 , family member = 1 with co-segregation
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237146 SCV000583688 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237146 SCV000606137 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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