ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.9C>T (p.Thr3=)

gnomAD frequency: 0.00002  dbSNP: rs1465865735
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776605 SCV000912221 likely benign Familial hypercholesterolemia 2018-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067336 SCV002386061 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-02-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002067336 SCV002800297 likely benign Hypercholesterolemia, autosomal dominant, 3 2021-07-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002067336 SCV004835859 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985126 SCV005472629 likely benign Cardiovascular phenotype 2024-08-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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