ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln)

dbSNP: rs869320652
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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 RCV000211696 SCV000295889 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211696 SCV000268659 pathogenic Hypercholesterolemia, familial, 1 2015-05-01 no assertion criteria provided clinical testing

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