ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1336C>T (p.Leu446=)

dbSNP: rs375651668
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866419 SCV001007509 likely benign Familial hypercholesterolemia 2024-01-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000866419 SCV001346788 likely benign Familial hypercholesterolemia 2017-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383988 SCV002691839 likely benign Cardiovascular phenotype 2018-04-17 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 RCV000508866 SCV004820302 likely benign Hypercholesterolemia, familial, 1 2024-01-11 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508866 SCV000606399 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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