ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2148G>A (p.Glu716=)

dbSNP: rs2077583057
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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 RCV001178135 SCV001342507 likely benign Familial hypercholesterolemia 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429802 SCV002728008 likely benign Cardiovascular phenotype 2021-06-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001178135 SCV003240302 likely benign Familial hypercholesterolemia 2022-10-03 criteria provided, single submitter clinical testing

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