ClinVar Miner

Submissions for variant NM_000041.3(APOE):c.[137T>C;388T>C]

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019456 SCV000039746 pathogenic APOE4(-)-FREIBURG 2017-02-15 no assertion criteria provided literature only
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation RCV001175124 SCV001321553 likely pathogenic Familial hypercholesterolemia 2020-05-27 no assertion criteria provided clinical testing Multiple, unrelated, probands were referred, from independent clinics, for clinical genetic testing for familial hypercholesterolemia. Clinical genetic testing identified heterozygosity for the APOE4(-)-FREIBURG haplotype consisting of p.Cys130Arg (E4) AND p.Leu46Pro genetic variants in the germline. Amongst these, all had the haplotype. Phenotype segregated with genotype in the families tested.

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