ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11233830)_(11234040_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004581005 SCV005063548 pathogenic Familial hypercholesterolemia 2023-11-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15 of the LDLR gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with familial hypercholesterolemia (PMID: 1315570, 26632531, 29353225; Invitae). For these reasons, this variant has been classified as Pathogenic.

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