ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) (rs12714214)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000497215 SCV000588419 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000655166 SCV000777091 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-12-07 criteria provided, single submitter clinical testing
Color RCV000776488 SCV000912068 likely benign Familial hypercholesterolemias 2017-07-15 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845454 SCV000987543 likely benign not provided criteria provided, single submitter clinical testing

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