ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9975C>A (p.Thr3325=)

gnomAD frequency: 0.00001  dbSNP: rs1226284347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838039 SCV000777043 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-10-15 criteria provided, single submitter clinical testing
GENinCode PLC RCV004820078 SCV005441618 likely benign Familial hypercholesterolemia 2023-05-05 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. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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