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
Invitae RCV000858146 SCV000285023 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000231947 SCV000295754 benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000231947 SCV000322987 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/95 non-FH individuals
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000231947 SCV000323105 likely benign Familial hypercholesterolemia 1 2016-08-31 criteria provided, single submitter research does not meet required criteria
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.
Fundacion Hipercolesterolemia Familiar RCV000231947 SCV000607655 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000231947 SCV000689769 benign Familial hypercholesterolemia 1 2017-06-22 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000231947 SCV000782932 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000231947 SCV000606557 benign Familial hypercholesterolemia 1 no assertion criteria provided research

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