ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.531G>A (p.Ser177=)

gnomAD frequency: 0.00001  dbSNP: rs555158224
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080091 SCV000752441 likely benign Familial hypercholesterolemia 2023-12-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001080091 SCV001341922 likely benign Familial hypercholesterolemia 2019-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350129 SCV002646801 likely benign Cardiovascular phenotype 2020-03-11 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 RCV000508745 SCV004820176 likely benign Hypercholesterolemia, familial, 1 2024-02-05 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508745 SCV000606149 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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