ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.48C>A (p.Leu16=)

gnomAD frequency: 0.00001  dbSNP: rs565675103
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238433 SCV000294424 benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000238433 SCV000607407 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Ambry Genetics RCV002338777 SCV002635798 likely benign Cardiovascular phenotype 2023-08-08 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.
Invitae RCV003581593 SCV004298007 likely benign Familial hypercholesterolemia 2023-11-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000238433 SCV004820105 likely benign Hypercholesterolemia, familial, 1 2023-12-01 criteria provided, single submitter clinical testing

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