ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del

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Total submissions: 2
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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 RCV000454525 SCV000540889 pathogenic Hypercholesterolemia, familial, 1 2016-11-05 criteria provided, single submitter clinical testing
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV001450037 SCV001653661 pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing

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