ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2068-4T>A (rs41291161)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454607 SCV000538319 likely 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: Not in splice consensus
Invitae RCV000456524 SCV000554800 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-12-14 criteria provided, single submitter clinical testing
Color RCV000583520 SCV000687214 likely benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000454607 SCV000730571 likely benign not specified 2017-12-19 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.
Robarts Research Institute,Western University RCV000583520 SCV000782826 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000776084 SCV000910832 benign Familial hypercholesterolemias 2018-06-28 criteria provided, single submitter clinical testing

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