ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2289G>T (p.Glu763Asp) (rs774698247)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211700 SCV000268662 uncertain significance Familial hypercholesterolemia 2010-04-13 no assertion criteria provided clinical testing
Color RCV000776247 SCV000911499 likely benign Familial hypercholesterolemias 2017-12-08 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000211700 SCV000295931 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only

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