ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1359-29G>A

gnomAD frequency: 0.00001  dbSNP: rs879254877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237721 SCV000295388 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Color Diagnostics, LLC DBA Color Health RCV001526180 SCV001736481 likely benign Familial hypercholesterolemia 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992123 SCV005609309 likely benign Cardiovascular phenotype 2024-08-07 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.

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