ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2469T>C (p.Phe823=)

gnomAD frequency: 0.00001  dbSNP: rs1026436742
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002178244 SCV002343477 likely benign Familial hypercholesterolemia 2024-01-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011225 SCV004829566 likely benign Hypercholesterolemia, familial, 1 2024-08-06 criteria provided, single submitter clinical testing

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