ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.507C>T (p.Asn169=) (rs146354103)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030137 SCV000052792 likely benign Familial hypercholesterolemia 1 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000030137 SCV000266317 uncertain significance Familial hypercholesterolemia 1 2016-08-31 criteria provided, single submitter research MAF =<0.3%, LDL-C >=160 mg/dL
LDLR-LOVD, British Heart Foundation RCV000030137 SCV000294752 benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454741 SCV000539507 likely benign not specified 2016-03-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent, not in splice consensus; ExAC: 0.2% (11/6614) Finnish; ClinVar: 1 LB
Fundacion Hipercolesterolemia Familiar RCV000030137 SCV000607465 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
GeneDx RCV000454741 SCV000730504 likely benign not specified 2017-12-06 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.
Invitae RCV000775042 SCV000752450 benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000775042 SCV000909139 likely benign Familial hypercholesterolemia 2017-08-25 criteria provided, single submitter clinical testing
Mendelics RCV000030137 SCV001140981 benign Familial hypercholesterolemia 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030137 SCV001282939 uncertain significance Familial hypercholesterolemia 1 2019-02-11 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000030137 SCV000606139 benign Familial hypercholesterolemia 1 no assertion criteria provided research

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