ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.35del (p.Leu12fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455114 SCV000538314 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Likely rs17240441, a single common 9 bp deletion
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497221 SCV000588408 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research

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