ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.941-5C>T

gnomAD frequency: 0.00001  dbSNP: rs750183389
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189123 SCV001356334 likely benign Familial hypercholesterolemia 2019-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001189123 SCV001700340 likely benign Familial hypercholesterolemia 2023-01-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779131 SCV002014849 uncertain significance not specified 2021-10-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010340 SCV004824244 likely benign Hypercholesterolemia, familial, 1 2023-08-15 criteria provided, single submitter clinical testing

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