ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6937= (p.Ile2313=) (rs584542)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475274 SCV000554808 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497200 SCV000588442 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research

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