ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.621C>A (p.Gly207=)

dbSNP: rs121908044
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001419011 SCV001621256 likely benign Familial hypercholesterolemia 2024-06-18 criteria provided, single submitter clinical testing
Mendelics RCV002246380 SCV002518174 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006951 SCV004828672 likely benign Hypercholesterolemia, familial, 1 2023-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995789 SCV005612292 likely benign Cardiovascular phenotype 2024-11-18 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.

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