ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1335C>T (p.Pro445=)

dbSNP: rs1200168752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524657 SCV001734588 likely benign Familial hypercholesterolemia 2020-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003605762 SCV004557800 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-08-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003605762 SCV004842404 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-06-28 criteria provided, single submitter clinical testing

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