ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1413A>G (p.Arg471=) (rs5930)

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Total submissions: 8
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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 RCV000237328 SCV000322950 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 20 Hmz + 37 Htz / 92 non-FH individuals; MAF = 29,7% in 86 Spanish healthy individuals
Color RCV000237328 SCV000689760 benign Familial hypercholesterolemia 2017-05-30 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000237328 SCV000987006 benign Familial hypercholesterolemia 2018-05-23 criteria provided, single submitter clinical testing Due to the increased occurrence of the mutation (>= 5%), this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000237328 SCV000410533 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000237328 SCV000295415 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237328 SCV000606417 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000182337 SCV000269223 benign not specified 2016-02-09 criteria provided, single submitter clinical testing Arg471Arg in exon 10 of LDLR: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 38.4% (3301/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs5930).
PreventionGenetics RCV000182337 SCV000304685 benign not specified criteria provided, single submitter clinical testing

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