ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) (rs879255000)

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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 RCV000238365 SCV000295617 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000238365 SCV000484700 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238365 SCV000503399 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family member = 1 with co-segregation / Other mutation at same codon/software prediction damaging
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000238365 SCV000540895 likely pathogenic Familial hypercholesterolemia 1 2017-01-22 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000238365 SCV000607632 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research

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