ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13683C>T (p.Ile4561=)

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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 RCV002700762 SCV002993131 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-12-24 criteria provided, single submitter clinical testing
GENinCode PLC RCV004820261 SCV005441533 likely benign Familial hypercholesterolemia 2023-10-20 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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