ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) (rs562574661)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256307 SCV000322867 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/192 non-FH alleles
Robarts Research Institute,Western University RCV000256307 SCV000484835 uncertain significance Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256307 SCV000588469 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Invitae RCV000543542 SCV000659268 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000771550 SCV000904112 uncertain significance Familial hypercholesterolemia 2019-05-30 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845480 SCV000987575 likely pathogenic Familial hypercholesterolemia 2 criteria provided, single submitter clinical testing

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