ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.941-39C>T (rs55792959)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000238407 SCV000607536 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
GeneDx RCV000615723 SCV000730508 likely benign not specified 2018-01-19 no assertion criteria provided 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.
Iberoamerican FH Network RCV000238407 SCV000748138 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000238407 SCV000556779 benign Familial hypercholesterolemia 2017-12-30 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000238407 SCV000295084 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238407 SCV000606279 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000238407 SCV000588532 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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