ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10037G>T (p.Ser3346Ile)

gnomAD frequency: 0.00002  dbSNP: rs373190270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics, University of Luebeck RCV000172966 SCV000212144 likely benign Hypercholesterolemia, familial, 1 criteria provided, single submitter research
Invitae RCV001837467 SCV001199102 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001596982 SCV001830572 uncertain significance not provided 2021-01-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26036859)

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