ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.589T>C (p.Cys197Arg) (rs730882085)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211695 SCV000294804 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211695 SCV000322903 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161961 SCV000189536 not provided not provided no assertion provided in vitro
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211695 SCV000268572 pathogenic Familial hypercholesterolemia 2008-06-05 no assertion criteria provided clinical testing

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