ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1469G>T (p.Trp490Leu)

dbSNP: rs875989922
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Total submissions: 1
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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 RCV000211612 SCV000268619 pathogenic Hypercholesterolemia, familial, 1 2012-09-20 no assertion criteria provided clinical testing

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