ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.208-16C>A

gnomAD frequency: 0.00003  dbSNP: rs927208593
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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 RCV000583213 SCV000690978 likely benign Hypercholesterolemia, familial, 1 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003500580 SCV004270229 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-11-30 criteria provided, single submitter clinical testing

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