ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1548G>A (p.Gly516=)

gnomAD frequency: 0.00003  dbSNP: rs557227031
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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 RCV001182027 SCV001347342 likely benign Familial hypercholesterolemia 2023-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192681 SCV001360954 likely benign not specified 2019-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068305 SCV002338524 likely benign Hypercholesterolemia, autosomal dominant, 3 2022-11-23 criteria provided, single submitter clinical testing

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