ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2125A>G (p.Arg709Gly) (rs1057519684)

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Total submissions: 2
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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 RCV000417355 SCV000503466 likely pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/Software predictions: Conflicting
Color RCV001177575 SCV001341811 uncertain significance Familial hypercholesterolemia 2020-01-27 criteria provided, single submitter clinical testing

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