Submissions for variant NM_000202.8(IDS):c.825C>T (p.Asp275=)

gnomAD frequency: 0.00120  dbSNP: rs148038243

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000865485	SCV001006462	benign	Mucopolysaccharidosis, MPS-II	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002427123	SCV002677670	benign	Inborn genetic diseases	2018-04-02	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences	RCV003928379	SCV004745733	likely benign	IDS-related disorder	2019-09-30	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV001701457	SCV001920533	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726350	SCV001966930	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001825724	SCV002084479	likely benign	Mucopolysaccharidosis, MPS-III-A	2020-04-11	no assertion criteria provided	clinical testing