ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2472C>T (p.Asp824=)

gnomAD frequency: 0.00001  dbSNP: rs1309851194
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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 RCV001447898 SCV001650976 likely benign Familial hypercholesterolemia 2021-12-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003159 SCV004830225 likely benign Hypercholesterolemia, familial, 1 2023-06-08 criteria provided, single submitter clinical testing

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