ClinVar Miner

Submissions for variant NC_000019.9:g.(?_11221308)_(11234040_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963225 SCV002239656 pathogenic Familial hypercholesterolemia 2021-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the LDLR gene that includes exon(s) 7 has been determined to be clinically significant (PMID: 3572996, 1319734, 11810272). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. A similar copy number variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 15936313, 16250003). This variant is a gross deletion of the genomic region encompassing exon(s) 7-15 of the LDLR gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.