ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)

dbSNP: rs771978846
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775259 SCV000909518 likely benign Familial hypercholesterolemia 2018-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421641 SCV001624170 likely benign Hypercholesterolemia, autosomal dominant, 3 2024-07-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440611 SCV002744917 benign Cardiovascular phenotype 2024-08-12 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117564 SCV003801299 likely benign not specified 2023-01-01 criteria provided, single submitter clinical testing

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