ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) (rs794728584)

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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 RCV000238444 SCV000295752 uncertain significance 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 RCV000238444 SCV000503432 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/software prediction damaging
Iberoamerican FH Network RCV000238444 SCV000748103 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV000238444 SCV001428876 uncertain significance Familial hypercholesterolemia 1 2018-07-23 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238444 SCV000606556 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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