ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2448G>C (rs1399689294)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000508976 SCV000607708 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000508976 SCV000748158 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine RCV001293740 SCV001482465 uncertain significance Familial hypercholesterolemia criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508976 SCV000606655 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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