ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6895G>C (p.Asp2299His) (rs12713681)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776067 SCV000910754 benign Familial hypercholesterolemias 2017-07-07 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239069 SCV000296919 likely benign not specified 2015-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000239069 SCV000730569 benign not specified 2017-07-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000347965 SCV000427049 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392146 SCV000427050 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468463 SCV000554833 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000239069 SCV000538316 benign not specified 2016-10-20 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 RCV000347965 SCV000588441 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000347965 SCV000782875 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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