ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1592T>G (p.Met531Arg) (rs779913921)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000211572 SCV000484768 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211572 SCV000268624 pathogenic Familial hypercholesterolemia 1 2015-11-27 no assertion criteria provided clinical testing

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