ClinVar Miner

Submissions for variant NM_144643.4(SCLT1):c.1439+1del

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
Clinical Genetics Laboratory, Region Ostergotland RCV004720217 SCV005326490 likely pathogenic Bardet-Biedl syndrome 2024-01-23 criteria provided, single submitter clinical testing The SCLT1 variant c.1439+1del was present in the homozygous state in 1 patient. The patient's heterozygous sibling is unaffected. Consanguineous parents. The following ACMG criteria were applied in classifying this variant: PVS1, PM2

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.