ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1885T>G (p.Phe629Val)

dbSNP: rs765736500
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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 RCV000211680 SCV000295740 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia RCV000211680 SCV001432598 likely pathogenic Hypercholesterolemia, familial, 1 2019-03-12 criteria provided, single submitter research
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211680 SCV000268647 uncertain significance Hypercholesterolemia, familial, 1 2009-12-17 no assertion criteria provided clinical testing

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