ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.945C>T (p.Ala315=)

gnomAD frequency: 0.00006  dbSNP: rs1378856006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181093 SCV001346170 likely benign Familial hypercholesterolemia 2019-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353194 SCV004056439 likely benign Cardiovascular phenotype 2023-07-15 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 RCV004006718 SCV004838776 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-18 criteria provided, single submitter clinical testing

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