ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.232C>T (p.Arg78Cys) (rs370860696)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148596 SCV000190311 uncertain significance Hypercholesterolaemia 2014-06-01 no assertion criteria provided research
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211670 SCV000268543 pathogenic Familial hypercholesterolemia 2010-11-29 no assertion criteria provided clinical testing
LDLR-LOVD, British Heart Foundation RCV000211670 SCV000294541 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only

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