ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.81C>T (p.Cys27=) (rs2228671)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238104 SCV000322875 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 3 Hmz + 28 Htz / 95 non-FH individuals; MAF = 13,4% in 86 Spanish healthy individuals
Color RCV000238104 SCV000689781 benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000238104 SCV000987020 benign Familial hypercholesterolemia 2019-02-08 criteria provided, single submitter clinical testing Due to the increased occurrence of the mutation (>= 5%) and the current estimates of databases (LOVD 3), this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000238104 SCV000733810 benign Familial hypercholesterolemia no assertion criteria provided clinical testing
GeneDx RCV000248705 SCV000525633 benign not specified 2016-11-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000238104 SCV000410524 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000238104 SCV000294454 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238104 SCV000606007 benign Familial hypercholesterolemia no assertion criteria provided research
PreventionGenetics RCV000248705 SCV000304693 benign not specified criteria provided, single submitter clinical testing

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