ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) (rs879255010)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238337 SCV000295637 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000238337 SCV000607635 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine RCV001293734 SCV001482444 uncertain significance Familial hypercholesterolemia criteria provided, single submitter research

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