ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1728G>A (p.Pro576=)

gnomAD frequency: 0.00001  dbSNP: rs755272637
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871480 SCV001013149 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-04-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182029 SCV001347344 likely benign Familial hypercholesterolemia 2018-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409080 SCV002715630 likely benign Cardiovascular phenotype 2019-05-19 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.
All of Us Research Program, National Institutes of Health RCV000871480 SCV004846009 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526782 SCV005040629 likely benign not specified 2024-03-28 criteria provided, single submitter clinical testing

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