ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) (rs879254526)

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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 RCV000238446 SCV000294714 likely pathogenic Familial hypercholesterolemia 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 RCV000238446 SCV000503160 likely pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 / other mutation at same codon / Software predictions: Damaging
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000238446 SCV000583680 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238446 SCV000599333 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter curation

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