ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1845+11C>G (rs370245937)

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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 RCV000211610 SCV000295702 likely pathogenic Familial hypercholesterolemia 1 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 1 2016-03-01 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284642 SCV001470532 likely pathogenic not provided 2020-08-12 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. The gain of a new splice site is predicted. Low nucleotide conservation. Statistically enriched in uncharacterized patients vs. unmatched population data. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211610 SCV000268642 pathogenic Familial hypercholesterolemia 1 2014-04-04 no assertion criteria provided clinical testing

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