ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1875C>T (p.Asn625=) (rs137853962)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000210227 SCV000266308 likely benign Familial hypercholesterolemia 1 2015-08-31 criteria provided, single submitter research MAF =<0.3%
LDLR-LOVD, British Heart Foundation RCV000210227 SCV000295733 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000210227 SCV000322983 likely benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/95 non-FH individuals
GeneDx RCV000606941 SCV000730512 likely benign not specified 2017-01-31 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.
Robarts Research Institute,Western University RCV000210227 SCV000782930 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771316 SCV000903574 likely benign Familial hypercholesterolemia 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV000771316 SCV001003893 likely benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000058920 SCV001246010 likely benign not provided 2019-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000210227 SCV001283053 uncertain significance Familial hypercholesterolemia 1 2017-04-27 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.
Integrated Genetics/Laboratory Corporation of America RCV000606941 SCV001360704 likely benign not specified 2019-10-28 criteria provided, single submitter clinical testing
SNPedia RCV000058920 SCV000090441 not provided not provided no assertion provided not provided

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