ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.-8T>C

gnomAD frequency: 0.00001  dbSNP: rs886039837
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256269 SCV000323026 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000775015 SCV000909112 likely benign Familial hypercholesterolemia 2018-03-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995748 SCV004829123 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535241 SCV004717419 likely benign PCSK9-related disorder 2022-10-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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