ClinVar Miner

Submissions for variant FH Bologna 2

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238544 SCV000295709 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238544 SCV000322981 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000238544 SCV000588616 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000238544 SCV000607649 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000238544 SCV000748116 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
OMIM RCV000238544 SCV000024088 pathogenic Familial hypercholesterolemia 1991-02-01 no assertion criteria provided literature only

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