ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.45T>C (p.Asp15=)

dbSNP: rs1675833748
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262042 SCV002543632 uncertain significance Autoinflammatory syndrome 2020-08-21 criteria provided, single submitter clinical testing
Invitae RCV003523121 SCV004269338 likely benign Chédiak-Higashi syndrome 2023-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933718 SCV004754005 likely benign LYST-related disorder 2019-11-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.