ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1240A>C (p.Arg414=)

gnomAD frequency: 0.00004  dbSNP: rs763406953
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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 RCV001182023 SCV001347338 likely benign Familial hypercholesterolemia 2018-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410283 SCV001612327 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-11-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001410283 SCV004836664 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-10-27 criteria provided, single submitter clinical testing

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