ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.543G>T (p.Pro181=)

dbSNP: rs766577671
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184966 SCV001351069 likely benign Familial hypercholesterolemia 2019-10-24 criteria provided, single submitter clinical testing
Invitae RCV001184966 SCV001615071 likely benign Familial hypercholesterolemia 2023-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350130 SCV002652260 likely benign Cardiovascular phenotype 2022-08-22 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 RCV000508791 SCV004820177 likely benign Hypercholesterolemia, familial, 1 2023-10-23 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508791 SCV000606155 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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