ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) (rs879254849)

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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 RCV000238040 SCV000295334 likely 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 RCV000238040 SCV000503326 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 15 , family members = 6 with co-segregation / variant systematically associated with c.798T>A, p.Asp266Glu / Software predictions: Conflicting
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238040 SCV000599370 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238040 SCV000606378 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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