ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.397C>T (p.Leu133=)

gnomAD frequency: 0.00002  dbSNP: rs377361152
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482460 SCV001686831 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-03-26 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508751 SCV000606690 likely benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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