ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4911G>A (p.Ser1637=)

gnomAD frequency: 0.00001  dbSNP: rs756222196
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002105354 SCV002399843 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507989 SCV002807964 likely benign Smith-Magenis syndrome 2021-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970877 SCV004778011 likely benign RAI1-related disorder 2022-08-01 no assertion criteria provided 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.