ClinVar Miner

Submissions for variant NC_000005.9:g.(?_1253833)_(1253956_?)dup

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 RCV000809983 SCV000950169 uncertain significance Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 2019-12-05 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 16 of the TERT gene. The 5' boundary is likely confined to intron 15. The 3' end of this event is unknown as it 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. This variant has not been reported in the literature in individuals with TERT-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.

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.