ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3279C>G (p.Thr1093=)

gnomAD frequency: 0.00163  dbSNP: rs72653075
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838041 SCV000777046 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2025-01-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000655121 SCV001133403 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000655121 SCV001789958 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30333156)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000655121 SCV002048318 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325327 SCV002611086 likely benign Cardiovascular phenotype 2023-12-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GENinCode PLC RCV004820079 SCV005441676 likely benign Familial hypercholesterolemia 2024-02-13 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved and has a PopMax FAF which is greater than expected for this disorder. Therefore this variant has been classified as Likely Benign (BS1, BP4, BP7).
Clinical Genetics, Academic Medical Center RCV001701148 SCV001920560 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000655121 SCV001963506 likely benign not provided no assertion criteria provided clinical testing

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