ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3843C>T (p.Ser1281=)

gnomAD frequency: 0.00240  dbSNP: rs72653079
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000304529 SCV000427091 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343210 SCV000427092 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001837863 SCV000659282 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000610645 SCV000714966 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812874 SCV002048568 likely benign not provided 2021-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356459 SCV002623590 likely benign Cardiovascular phenotype 2018-04-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001812874 SCV004218586 benign not provided 2023-08-02 criteria provided, single submitter clinical testing

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