ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.162T>C (p.Tyr54=)

gnomAD frequency: 0.00007  dbSNP: rs141088021
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV005243399 SCV005890482 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing IDS: BP4, BP7, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000880961 SCV001024094 benign Mucopolysaccharidosis, MPS-II 2026-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000880961 SCV001465836 likely benign Mucopolysaccharidosis, MPS-II 2020-09-29 no assertion criteria provided clinical testing

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.