ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.501G>A (p.Arg167=)

dbSNP: rs748481228
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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 RCV000775265 SCV000909524 likely benign Familial hypercholesterolemia 2018-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001473331 SCV001677483 likely benign Hypercholesterolemia, autosomal dominant, 3 2018-07-29 criteria provided, single submitter clinical testing

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