ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.555C>T (p.Asn185=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GENinCode PLC RCV004820785 SCV005441577 likely benign Familial hypercholesterolemia 2024-08-21 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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