Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546994 | SCV000627009 | uncertain significance | Hypercholesterolemia, familial, 1 | 2017-07-10 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 15-18 of the LDLR gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with LDLR-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Invitae | RCV003105942 | SCV003793378 | uncertain significance | Familial hypercholesterolemia | 2017-07-04 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 15-18 of the LDLR gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with LDLR-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |