ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1083C>T (p.Pro361=)

dbSNP: rs567564778
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877728 SCV001020506 likely benign Familial hypercholesterolemia 2023-12-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000877728 SCV001356338 likely benign Familial hypercholesterolemia 2017-08-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003126 SCV004820264 likely benign Hypercholesterolemia, familial, 1 2024-02-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526783 SCV005039848 likely benign not specified 2024-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994098 SCV005612293 likely benign Cardiovascular phenotype 2024-07-01 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. RCV000877728 SCV002086404 likely benign Familial hypercholesterolemia 2021-10-19 no assertion criteria provided clinical testing

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