ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11199955)_(11218210_?)dup

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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 RCV001939662 SCV002235649 pathogenic Familial hypercholesterolemia 2022-01-11 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 1-6 of the LDLR gene. This region includes the initiator codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individuals with familial hypercholesterolemia (PMID: 23375686, 25461735; Invitae).

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