ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.60G>A (p.Gly20=)

gnomAD frequency: 0.00001  dbSNP: rs1276464477
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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 RCV001525853 SCV001736051 likely benign Familial hypercholesterolemia 2021-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359150 SCV002660492 likely benign Cardiovascular phenotype 2022-01-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001525853 SCV003783210 likely benign Familial hypercholesterolemia 2023-12-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008879 SCV004820107 likely benign Hypercholesterolemia, familial, 1 2023-08-15 criteria provided, single submitter clinical testing

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