ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) (rs200142970)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148593 SCV000190308 uncertain significance Hypercholesterolaemia 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000210245 SCV000266313 uncertain significance Familial hypercholesterolemia 2015-08-31 criteria provided, single submitter research MAF =<0.3%, LDL-C >=160 mg/dL
LDLR-LOVD, British Heart Foundation RCV000210245 SCV000295926 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000210245 SCV000606620 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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