ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.*5_*8delinsTT

dbSNP: rs797044655
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV004584201 SCV005068293 benign Christianson syndrome 2024-04-18 reviewed by expert panel curation The allele frequency of the c.*5_*8delinsTT variant (denoted as c.*5_*6del + c.*8 A>T) in SLC9A6 is 0.27% in European (non-Finnish) sub population in gnomAD v4.0, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.*5_*8delinsTT variant in SLC9A6 is classified as benign based on the ACMG/AMP criteria (BA1).
Eurofins Ntd Llc (ga) RCV000175063 SCV000336683 benign not specified 2015-10-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000993016 SCV001145710 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing.
GeneDx RCV000993016 SCV001934938 likely benign not provided 2017-11-06 criteria provided, single submitter clinical testing

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.