ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2382C>G (p.Leu794=)

gnomAD frequency: 0.00001  dbSNP: rs1271856256
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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 RCV001185533 SCV001351771 likely benign Familial hypercholesterolemia 2020-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001185533 SCV001633190 likely benign Familial hypercholesterolemia 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451384 SCV002735953 likely benign Cardiovascular phenotype 2021-09-07 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 RCV004008537 SCV004820677 likely benign Hypercholesterolemia, familial, 1 2024-06-09 criteria provided, single submitter clinical testing

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