ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) (rs555292896)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000238541 SCV000689768 likely benign Familial hypercholesterolemia 2017-09-08 criteria provided, single submitter clinical testing
Color RCV000771171 SCV000903100 benign Familial hypercholesterolemias 2018-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000426889 SCV000520998 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000238541 SCV000752449 likely benign Familial hypercholesterolemia 2018-01-08 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000238541 SCV000295729 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238541 SCV000606546 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Robarts Research Institute,Western University RCV000238541 SCV000782929 uncertain significance Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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