ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly) (rs61742331)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000408877 SCV000484831 uncertain significance Familial hypercholesterolemia criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000408877 SCV000588449 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000655106 SCV000777031 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-09-21 criteria provided, single submitter clinical testing
Color RCV000776114 SCV000910988 likely benign Familial hypercholesterolemias 2017-07-15 criteria provided, single submitter clinical testing

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