ClinVar Miner

Submissions for variant NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) (rs533555352)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000417338 SCV000503503 likely benign Familial hypercholesterolemia 3 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1, family member = 1, without co-segregation / Software predictions: Damaging
Robarts Research Institute,Western University RCV000660749 SCV000782984 uncertain significance Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000775305 SCV000909564 likely benign Familial hypercholesterolemia 2018-10-18 criteria provided, single submitter clinical testing

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