ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.564C>T (p.Tyr188=) (rs121908034)

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Total submissions: 4
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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 RCV000211646 SCV000268571 likely benign Familial hypercholesterolemia 2015-09-24 no assertion criteria provided clinical testing
Color RCV000211646 SCV000689779 likely benign Familial hypercholesterolemia 2017-09-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590562 SCV000697240 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing
Invitae RCV000211646 SCV000627043 likely benign Familial hypercholesterolemia 2017-11-20 criteria provided, single submitter clinical testing

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