ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) (rs574337291)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237270 SCV000322879 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/100 normolipidemic individuals
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237270 SCV000503113 likely pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family member = 1 with co-segregation / mild phenotype / Software predictions: Damaging
LDLR-LOVD, British Heart Foundation RCV000237270 SCV000294538 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille RCV000237270 SCV000583641 likely pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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