ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.2055G>A (p.Ala685=)

dbSNP: rs1490853919
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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 RCV001189852 SCV001357218 likely benign Familial hypercholesterolemia 2019-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001430489 SCV001633231 likely benign Hypercholesterolemia, autosomal dominant, 3 2022-12-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001430489 SCV005429419 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-02-22 criteria provided, single submitter clinical testing

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