ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11761G>A (p.Val3921Ile) (rs72654409)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455519 SCV000538332 uncertain significance not specified 2016-06-23 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: Frequency
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000497114 SCV000588458 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000527382 SCV000659255 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000455519 SCV000730563 benign not specified 2017-07-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000776107 SCV000910952 likely benign Familial hypercholesterolemias 2017-09-01 criteria provided, single submitter clinical testing

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