ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1710C>T (p.Leu570=)

gnomAD frequency: 0.00007  dbSNP: rs141095938
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863839 SCV001004561 likely benign Familial hypercholesterolemia 2023-10-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000863839 SCV001342730 likely benign Familial hypercholesterolemia 2019-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399875 SCV002712921 likely benign Cardiovascular phenotype 2022-01-19 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 RCV004002939 SCV004822489 likely benign Hypercholesterolemia, familial, 1 2023-10-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702481 SCV005202442 likely benign not specified 2024-07-27 criteria provided, single submitter clinical testing

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