ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.399C>T (p.Asp133=)

dbSNP: rs2077269856
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185476 SCV001351686 likely benign Familial hypercholesterolemia 2017-08-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001200615 SCV001371622 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001185476 SCV001688204 likely benign Familial hypercholesterolemia 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375088 SCV002625672 likely benign Cardiovascular phenotype 2020-09-13 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 RCV004008535 SCV004820161 likely benign Hypercholesterolemia, familial, 1 2023-04-10 criteria provided, single submitter clinical testing

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