ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.132C>T (p.Ala44=)

dbSNP: rs1178309760
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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 RCV000776570 SCV000912182 likely benign Familial hypercholesterolemia 2017-08-28 criteria provided, single submitter clinical testing
GENinCode PLC RCV000776570 SCV005441495 likely benign Familial hypercholesterolemia 2023-06-12 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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