ClinVar Miner

Submissions for variant FH Vancouver 4

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000003907 SCV000294441 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000003907 SCV000607410 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
OMIM RCV000003907 SCV000024072 pathogenic Familial hypercholesterolemia 1 2017-11-28 no assertion criteria provided literature only
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000003907 SCV000268671 pathogenic Familial hypercholesterolemia 1 2008-07-07 no assertion criteria provided clinical testing

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