ClinVar Miner

Submissions for variant NC_000019.10:g.(?_11110613)_(11111650_?)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 RCV000823242 SCV000964093 pathogenic Familial hypercholesterolemia 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7-8 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: 3198114, 16796766, 17399720, 20145306, 22881376). It has also been observed to segregate with disease in related individuals. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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