ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4216+4A>G (rs886055588)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000387964 SCV000427084 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296008 SCV000427085 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000771572 SCV000904153 uncertain significance Familial hypercholesterolemias 2018-07-05 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant occurs close to the intron 25 splice donor site of the APOB gene. Computational splicing tools suggest that this intronic variant may have an impact on RNA splicing but, to our knowledge, functional assays have not been performed to investigate the impact on RNA splicing. This variant has not been reported in individuals affected with familial hypercholesterolemia in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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