ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation RCV000456010 SCV000540880 pathogenic Hypercholesterolemia, familial, 1 2016-11-05 criteria provided, single submitter clinical testing

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