ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1683G>A (p.Gln561=)

dbSNP: rs2077460841
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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 RCV001187152 SCV001353850 likely benign Familial hypercholesterolemia 2018-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163454 SCV003866484 likely benign Cardiovascular phenotype 2022-12-25 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 RCV004008676 SCV004822486 likely benign Hypercholesterolemia, familial, 1 2023-04-27 criteria provided, single submitter clinical testing

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