ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2073G>A (p.Ser691=)

dbSNP: rs146869252
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985765 SCV001134257 likely benign not provided 2019-05-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178328 SCV001342734 likely benign Familial hypercholesterolemia 2019-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001178328 SCV001628682 likely benign Familial hypercholesterolemia 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416265 SCV002729794 likely benign Cardiovascular phenotype 2022-03-03 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 RCV004004413 SCV004818494 likely benign Hypercholesterolemia, familial, 1 2023-12-01 criteria provided, single submitter clinical testing

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