ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1681+10T>C

gnomAD frequency: 0.00004  dbSNP: rs181296942
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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 RCV000775292 SCV000909551 likely benign Familial hypercholesterolemia 2017-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517505 SCV001726016 benign Hypercholesterolemia, autosomal dominant, 3 2024-01-18 criteria provided, single submitter clinical testing

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