ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.324G>T (p.Thr108=)

dbSNP: rs146517429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244130 SCV000304692 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002321925 SCV002609863 likely benign Cardiovascular phenotype 2021-08-31 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 RCV000508926 SCV004830391 likely benign Hypercholesterolemia, familial, 1 2023-08-28 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508926 SCV000606085 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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