ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1044G>A (p.Leu348=)

dbSNP: rs1423534032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187092 SCV001353756 likely benign Familial hypercholesterolemia 2019-11-24 criteria provided, single submitter clinical testing
GENinCode PLC RCV001187092 SCV005627224 likely benign Familial hypercholesterolemia 2025-01-10 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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