ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) (rs146651743)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237617 SCV000503242 pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family members = 5 with co-segregation / previously described in association with FH / Software predictions: Conflicting
LDLR-LOVD, British Heart Foundation RCV000237617 SCV000295005 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237617 SCV000606241 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000237617 SCV000588521 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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