ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val) (rs1041968)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771028 SCV000902524 likely benign Familial hypercholesterolemias 2017-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000116388 SCV000519284 benign not specified 2016-10-07 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.
Genetic Services Laboratory, University of Chicago RCV000116388 SCV000150312 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000392137 SCV000427047 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283635 SCV000427048 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000655178 SCV000777103 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116388 SCV000303946 benign not specified criteria provided, single submitter clinical testing

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