ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2037T>C (p.Tyr679=)

gnomAD frequency: 0.00001  dbSNP: rs760436036
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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 RCV001182068 SCV001347391 likely benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001182068 SCV003001864 likely benign Familial hypercholesterolemia 2022-06-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008270 SCV004818484 likely benign Hypercholesterolemia, familial, 1 2024-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994283 SCV005609321 likely benign Cardiovascular phenotype 2024-07-25 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.

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