ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.72C>T (p.Gly24=)

gnomAD frequency: 0.00002  dbSNP: rs774304077
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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 RCV000932312 SCV001077994 likely benign Familial hypercholesterolemia 2024-01-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000932312 SCV001345165 likely benign Familial hypercholesterolemia 2019-06-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169358 SCV003866492 likely benign Cardiovascular phenotype 2023-03-07 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 RCV004003245 SCV004820109 likely benign Hypercholesterolemia, familial, 1 2023-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000932312 SCV002086356 likely benign Familial hypercholesterolemia 2021-02-20 no assertion criteria provided clinical testing

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