Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033045 | SCV001196352 | pathogenic | Familial hypercholesterolemia | 2021-08-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the LDLR gene has been identified. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with hypercholesterolemia (PMID: 22881376). For these reasons, this variant has been classified as Pathogenic. |