Submissions for variant NM_000203.5(IDUA):c.891C>T (p.Asn297=)

gnomAD frequency: 0.04874  dbSNP: rs114806891

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078399	SCV000110245	benign	not specified	2013-08-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262223	SCV000451779	benign	Mucopolysaccharidosis type 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000675605	SCV000982406	benign	not provided	2018-06-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000262223	SCV001731187	benign	Mucopolysaccharidosis type 1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543823	SCV001762693	benign	Hurler syndrome	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543824	SCV001762694	benign	Mucopolysaccharidosis, MPS-I-H/S	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543825	SCV001762695	benign	Mucopolysaccharidosis, MPS-I-S	2021-07-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371925	SCV002685582	likely benign	Inborn genetic diseases	2022-05-19	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000675605	SCV000801302	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078399	SCV001923861	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078399	SCV001953149	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078399	SCV001971561	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000262223	SCV002075321	benign	Mucopolysaccharidosis type 1	2017-05-11	no assertion criteria provided	clinical testing