ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.811G>A (p.Val271Ile) (rs749220643)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000172960 SCV000212135 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter research
Color RCV001190239 SCV001357686 likely benign Familial hypercholesterolemia 2018-05-08 criteria provided, single submitter clinical testing

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