ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1060+10G>C

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213292 SCV000269221 benign not specified 2016-03-06 criteria provided, single submitter clinical testing c.1060+10G>C in intron 7 of LDLR: This variant is not expected to have clinical significance because it has been identified in 38.5% (46591/121050) of total chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs12710260).
LDLR-LOVD, British Heart Foundation RCV000237221 SCV000295176 benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000213292 SCV000304679 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237221 SCV000322928 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 22 Hmz + 46 Htz / 95 non-FH individuals; MAF = 49,4% in 86 Spanish healthy individuals
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000237221 SCV000323102 likely benign Familial hypercholesterolemia 1 2016-08-31 criteria provided, single submitter research MAF =<0.3%
Illumina Clinical Services Laboratory,Illumina RCV000237221 SCV000410530 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.
GeneDx RCV000213292 SCV000517222 benign not specified 2016-09-30 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.
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000237221 SCV000588548 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Athena Diagnostics Inc RCV000213292 SCV000614002 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Color RCV000237221 SCV000689755 benign Familial hypercholesterolemia 1 2017-06-22 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000237221 SCV000987005 benign Familial hypercholesterolemia 1 2018-06-08 criteria provided, single submitter clinical testing Due to the increased occurrence of the mutation (>= 5%), this variant is classified as benign.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237221 SCV000606306 benign Familial hypercholesterolemia 1 no assertion criteria provided research

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