ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1290C>T (p.Val430=)

dbSNP: rs1568603661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179953 SCV001344763 likely benign Familial hypercholesterolemia 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001179953 SCV001645976 likely benign Familial hypercholesterolemia 2024-10-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003071 SCV004820292 likely benign Hypercholesterolemia, familial, 1 2023-12-07 criteria provided, single submitter clinical testing

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