ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1705+18C>A

gnomAD frequency: 0.00022  dbSNP: rs186896947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776528 SCV000912124 likely benign Familial hypercholesterolemia 2017-11-19 criteria provided, single submitter clinical testing
Invitae RCV000776528 SCV002473378 benign Familial hypercholesterolemia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406702 SCV002715804 benign Cardiovascular phenotype 2022-07-26 criteria provided, single submitter clinical testing This alteration is classified as 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.

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