ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1845+11C>G (rs370245937)

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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 RCV000211610 SCV000295702 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211610 SCV000599396 likely pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter curation
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211610 SCV000268642 pathogenic Familial hypercholesterolemia 2014-04-04 no assertion criteria provided clinical testing

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