ClinVar Miner

Submissions for variant NC_000010.11:g.(?_66621672)_(66621804_?)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 RCV000529383 SCV000654830 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2024-01-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 10 of the CTNNA3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with affected with autism, but also in unaffected family members and healthy control individuals (PMID: 25050139). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.