ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.982G>A (p.Val328Ile) (rs768925824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202733 SCV000257700 uncertain significance Familial hypercholesterolemia 1 2015-07-10 criteria provided, single submitter clinical testing
Color RCV001176044 SCV001339861 likely benign Familial hypercholesterolemia 2019-03-12 criteria provided, single submitter clinical testing

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