ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.602T>C (p.Met201Thr)

dbSNP: rs1254535640
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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 RCV001184453 SCV001350421 likely benign Familial hypercholesterolemia 2020-03-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004807388 SCV005431378 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-07-20 criteria provided, single submitter clinical testing

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