ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) (rs139089530)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000211593 SCV000266315 uncertain significance Familial hypercholesterolemia 1 2016-08-31 criteria provided, single submitter research MAF =<0.3%, likely pathogenic based on the integrative in-silico score; LDL-C >=160 mg/dL
Color Health, Inc RCV001190232 SCV001357679 uncertain significance Familial hypercholesterolemia 2020-01-01 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211593 SCV000268567 uncertain significance Familial hypercholesterolemia 1 2011-10-07 no assertion criteria provided clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000211593 SCV000606140 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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