ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2496A>G (p.Thr832=)

dbSNP: rs1600765476
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000977159 SCV001125073 likely benign Familial hypercholesterolemia 2024-01-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000977159 SCV001358751 likely benign Familial hypercholesterolemia 2020-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427411 SCV002741057 likely benign Cardiovascular phenotype 2022-09-05 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.
Natera, Inc. RCV000977159 SCV002086882 likely benign Familial hypercholesterolemia 2020-10-20 no assertion criteria provided clinical testing

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