ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.367C>T (p.Leu123=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004017044 SCV004839916 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-06-26 criteria provided, single submitter clinical testing
GENinCode PLC RCV005001457 SCV005627230 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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