ClinVar Miner

Submissions for variant NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002468876 SCV002765075 pathogenic Hypercholesterolemia, familial, 1 2022-11-24 criteria provided, single submitter clinical testing _x000D_Exon 4-18 Deletion. Criteria applied: PVS1, PM2_SUP, PS4_SUP

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