ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.413C>A (p.Ser138Ter)

dbSNP: rs755799528
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001813910 SCV002061310 pathogenic Hypercholesterolemia, familial, 1 2021-12-10 criteria provided, single submitter clinical testing

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