ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1209C>T (p.Phe403=)

gnomAD frequency: 0.00002  dbSNP: rs777903106
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 RCV002188183 SCV002354642 likely benign Familial hypercholesterolemia 2023-12-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011232 SCV004826828 likely benign Hypercholesterolemia, familial, 1 2023-04-28 criteria provided, single submitter clinical testing

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