ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1060+7= (rs2738442)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712212 SCV000842650 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256309 SCV000322927 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Color RCV000256309 SCV000689756 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000218339 SCV000513477 benign not specified 2016-09-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000256309 SCV000410529 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000256309 SCV000606305 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218339 SCV000269222 benign not specified 2016-03-06 criteria provided, single submitter clinical testing 1060+7T>C in intron 7 of LDLR: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 100.0% (492/492) of African chromosomes from a bro ad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/ SNP; dbSNP rs2738442).
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000256309 SCV000588546 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
PreventionGenetics RCV000218339 SCV000304680 benign not specified criteria provided, single submitter clinical testing

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