ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.658-13G>A

gnomAD frequency: 0.00001  dbSNP: rs757913842
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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 RCV000775267 SCV000909526 likely benign Familial hypercholesterolemia 2018-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536697 SCV003467178 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-08-07 criteria provided, single submitter clinical testing

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