ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1875C>T (p.Asn625=) (rs137853962)

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Total submissions: 7
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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 2015-08-31 criteria provided, single submitter research MAF =<0.3%
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000210227 SCV000322983 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/95 non-FH individuals
Color RCV000771316 SCV000903574 likely benign Familial hypercholesterolemias 2017-07-07 criteria provided, single submitter clinical testing
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.
LDLR-LOVD, British Heart Foundation RCV000210227 SCV000295733 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000210227 SCV000782930 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
SNPedia RCV000058920 SCV000090441 not provided not provided no assertion provided not provided

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