ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.373C>A (p.Gln125Lys) (rs875989899)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000211665 SCV000294668 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211665 SCV000268560 uncertain significance Familial hypercholesterolemia 1 2008-07-07 no assertion criteria provided clinical testing

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