ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.300C>T (p.Asp100=)

gnomAD frequency: 0.00003  dbSNP: rs766709484
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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 RCV000238447 SCV000294589 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Color Diagnostics, LLC DBA Color Health RCV000775031 SCV000909128 likely benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000775031 SCV001650866 likely benign Familial hypercholesterolemia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436074 SCV002753280 likely benign Cardiovascular phenotype 2021-03-04 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 RCV000238447 SCV004820145 likely benign Hypercholesterolemia, familial, 1 2023-06-26 criteria provided, single submitter clinical testing

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