Submissions for variant NM_000202.8(IDS):c.781C>G (p.Pro261Ala)

gnomAD frequency: 0.00055  dbSNP: rs141720810

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002316687	SCV000850317	likely benign	Inborn genetic diseases	2016-11-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV000872965	SCV001014877	benign	Mucopolysaccharidosis, MPS-II	2024-01-21	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572835	SCV001797832	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572835	SCV001967630	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001825440	SCV002084480	likely benign	Mucopolysaccharidosis, MPS-III-A	2021-02-05	no assertion criteria provided	clinical testing