Submissions for variant NM_000046.5(ARSB):c.98C>T (p.Ala33Val)

gnomAD frequency: 0.01022  dbSNP: rs201168448

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173054	SCV000224135	benign	not specified	2014-11-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000341008	SCV000458390	likely benign	Mucopolysaccharidosis type 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000435594	SCV000511046	likely benign	not provided	2016-06-16	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	RCV000341008	SCV000803136	benign	Mucopolysaccharidosis type 6	2018-01-01	criteria provided, single submitter	curation	Allele frequency greater than expected for disorder (BS1); Homozygotes reported in GnomAD (BS2); Classified benign by a reputable source (BP6)
Mendelics	RCV000341008	SCV001136842	benign	Mucopolysaccharidosis type 6	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000341008	SCV001729202	benign	Mucopolysaccharidosis type 6	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000435594	SCV001862369	benign	not provided	2020-11-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17458871, 21228398, 22133300)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000173054	SCV002050840	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000341008	SCV002797242	benign	Mucopolysaccharidosis type 6	2022-04-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000435594	SCV004163004	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	ARSB: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000435594	SCV005224439	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000341008	SCV002084988	benign	Mucopolysaccharidosis type 6	2019-10-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975252	SCV004792849	likely benign	ARSB-related disorder	2020-03-23	no assertion criteria provided	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).