ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1632A>G (p.Lys544=)

gnomAD frequency: 0.00001  dbSNP: rs1291759570
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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 RCV001179493 SCV001344163 likely benign Familial hypercholesterolemia 2019-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001179493 SCV001654427 likely benign Familial hypercholesterolemia 2019-01-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006568 SCV004822482 likely benign Hypercholesterolemia, familial, 1 2023-02-24 criteria provided, single submitter clinical testing

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