ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.303G>A (p.Glu101=)

dbSNP: rs1600705245
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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 RCV001468929 SCV001672998 likely benign Familial hypercholesterolemia 2022-12-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004370 SCV004830101 likely benign Hypercholesterolemia, familial, 1 2023-06-08 criteria provided, single submitter clinical testing

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