ClinVar Miner

Submissions for variant NM_000527.5(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
LDLR-LOVD, British Heart Foundation RCV000238104 SCV000294454 benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000248705 SCV000304693 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238104 SCV000322875 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 3 Hmz + 28 Htz / 95 non-FH individuals; MAF = 13,4% in 86 Spanish healthy individuals
Illumina Clinical Services Laboratory,Illumina RCV000238104 SCV000410524 benign Familial hypercholesterolemia 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color RCV000238104 SCV000689781 benign Familial hypercholesterolemia 1 2017-06-01 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000238104 SCV000987020 benign Familial hypercholesterolemia 1 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.
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.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238104 SCV000606007 benign Familial hypercholesterolemia 1 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000238104 SCV000733810 benign Familial hypercholesterolemia 1 no assertion criteria provided clinical testing

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