ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.270T>C (p.Asp90=)

dbSNP: rs372828849
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000461453 SCV001134264 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182219 SCV001347578 likely benign Familial hypercholesterolemia 2017-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001269166 SCV001448440 likely benign not specified 2020-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001182219 SCV001628211 likely benign Familial hypercholesterolemia 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429582 SCV002743534 likely benign Cardiovascular phenotype 2017-03-17 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 RCV004002108 SCV004820139 likely benign Hypercholesterolemia, familial, 1 2023-11-07 criteria provided, single submitter clinical testing

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