ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.855G>A (p.Val285=)

dbSNP: rs2100311818
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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 RCV001804587 SCV002053346 likely benign Familial hypercholesterolemia 2021-03-16 criteria provided, single submitter clinical testing
GENinCode PLC RCV001804587 SCV005441499 likely benign Familial hypercholesterolemia 2024-06-03 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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