ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1920C>T (p.Asn640=) (rs5926)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000231947 SCV000323105 likely benign Familial hypercholesterolemia 2016-08-31 criteria provided, single submitter research does not meet required criteria
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000231947 SCV000322987 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/95 non-FH individuals
Color RCV000231947 SCV000689769 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000231947 SCV000607655 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
GeneDx RCV000419458 SCV000521000 benign not specified 2016-12-07 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 RCV000231947 SCV000285023 benign Familial hypercholesterolemia 2018-01-12 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000231947 SCV000295754 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000231947 SCV000606557 benign Familial hypercholesterolemia no assertion criteria provided research
Robarts Research Institute,Western University RCV000231947 SCV000782932 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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