ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.941-7T>C

gnomAD frequency: 0.00001  dbSNP: rs764945757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001479359 SCV001683654 likely benign Familial hypercholesterolemia 2023-11-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007144 SCV004843706 likely benign Hypercholesterolemia, familial, 1 2023-10-27 criteria provided, single submitter clinical testing

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