ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.422A>G (p.Gln141Arg)

dbSNP: rs1969863273
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation RCV001175125 SCV001314293 uncertain significance Familial type 3 hyperlipoproteinemia; Familial hypercholesterolemia; Hyperlipoproteinemia 2020-05-27 no assertion criteria provided clinical testing Proband referred for clinical genetic testing presented with hyperlipidemia and premature cardiovascular disease. Clinical genetic testing identified heterozygosity for the p.Gln141Arg (NM_000041.4:c.422A>G) genetic variant in the the germline. Phenotype segregated with genotype in family members.

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