Submissions for variant NM_000203.5(IDUA):c.942G>C (p.Ala314=)

gnomAD frequency: 0.16834  dbSNP: rs6830825

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078400	SCV000110246	benign	not specified	2015-12-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078400	SCV000302983	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331543	SCV000451780	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.
Invitae	RCV000331543	SCV001730206	benign	Mucopolysaccharidosis type 1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543826	SCV001762696	benign	Hurler syndrome	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543873	SCV001762761	benign	Mucopolysaccharidosis, MPS-I-H/S	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543874	SCV001762762	benign	Mucopolysaccharidosis, MPS-I-S	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675606	SCV001898599	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675606	SCV000801303	benign	not provided	2016-02-02	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000078400	SCV001740112	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078400	SCV001919713	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078400	SCV001963974	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000331543	SCV002075324	benign	Mucopolysaccharidosis type 1	2017-05-11	no assertion criteria provided	clinical testing