ClinVar Miner

Submissions for variant NM_001195798.2(LDLR):c.1878del (p.Ala627fs) (rs1057516134)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000408847 SCV000484808 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000408847 SCV000607652 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000408847 SCV000606549 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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