ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1140G>A (p.Glu380=)

dbSNP: rs1168542168
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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 RCV002135503 SCV002460442 likely benign Familial hypercholesterolemia 2021-03-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808218 SCV005427591 likely benign Hypercholesterolemia, familial, 1 2024-07-20 criteria provided, single submitter clinical testing

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