ClinVar Miner

Submissions for variant NM_001386135.1(AFF3):c.698C>T (p.Ala233Val)

dbSNP: rs2104734977
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
GeneDx RCV002253810 SCV002525395 pathogenic not provided 2021-12-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33961779)
Fulgent Genetics, Fulgent Genetics RCV001391180 SCV002782063 likely pathogenic KINSSHIP syndrome 2022-05-29 criteria provided, single submitter clinical testing
OMIM RCV001391180 SCV001593166 pathogenic KINSSHIP syndrome 2021-05-11 no assertion criteria provided literature only

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.