ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer)

dbSNP: rs869025305
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
MOLECULAR BIOLOGY LABORATORY, INSTITUTO NACIONAL DE PEDIATRIA RCV000207366 SCV000262707 pathogenic Mucopolysaccharidosis, MPS-II 2015-10-18 criteria provided, single submitter research Pathogenic variation identified in a Hunter syndrome male patient without I2S evaluation. He presents mental retardation, but no seizures, nor hydrocephaly.

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.