ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8826T>C (p.His2942=)

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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 RCV005000639 SCV005620377 likely benign Familial hypercholesterolemia 2025-01-09 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not highly conserved. This variant has been classified as Likely Benign (BP4, BP7).

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