ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) (rs140731590)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000352480 SCV000410541 uncertain significance Familial hypercholesterolemia 1 2016-06-14 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 RCV000352480 SCV000503464 likely benign Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/Software predictions: Conflicting
Invitae RCV000712213 SCV000752436 likely benign not provided 2019-02-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712213 SCV000842651 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Color RCV000775088 SCV000909192 likely benign Familial hypercholesterolemia 2018-02-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000712213 SCV001134258 uncertain significance not provided 2019-03-25 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000352480 SCV000606600 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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