ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12824A>C (p.Asp4275Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497160 SCV000588464 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002496903 SCV002816033 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002496903 SCV005864895 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-06-13 criteria provided, single submitter clinical testing

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