ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1778G>A (p.Gly593Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004012980 SCV004831231 uncertain significance Hypercholesterolemia, familial, 1 2023-04-27 criteria provided, single submitter clinical testing

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