ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.861C>T (p.Gly287=)

gnomAD frequency: 0.00005  dbSNP: rs770191650
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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 RCV000698309 SCV000826969 likely benign Familial hypercholesterolemia 2023-12-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000698309 SCV001359440 likely benign Familial hypercholesterolemia 2019-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369905 SCV002686209 likely benign Cardiovascular phenotype 2020-12-07 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.
All of Us Research Program, National Institutes of Health RCV003999679 SCV004820226 likely benign Hypercholesterolemia, familial, 1 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000698309 SCV002086392 uncertain significance Familial hypercholesterolemia 2019-10-28 no assertion criteria provided clinical testing

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