ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1285G>C (p.Val429Leu) (rs28942078)

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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 RCV000211588 SCV000268610 uncertain significance Familial hypercholesterolemia 2013-10-04 no assertion criteria provided clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211588 SCV000322940 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/208 non-FH alleles
LDLR-LOVD, British Heart Foundation RCV000211588 SCV000295342 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only

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