ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2382C>G (p.Leu794=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV001185533 SCV001351771 likely benign Familial hypercholesterolemia 2020-03-09 criteria provided, single submitter clinical testing

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