Submissions for variant NM_000487.6(ARSA):c.459C>T (p.His153=)

gnomAD frequency: 0.05937  dbSNP: rs6151412

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078946	SCV000110807	benign	not specified	2013-09-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078946	SCV000304458	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000325800	SCV000439440	benign	Metachromatic leukodystrophy	2018-01-12	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	RCV000325800	SCV000627141	benign	Metachromatic leukodystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000325800	SCV000677130	benign	Metachromatic leukodystrophy	2017-06-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000675752	SCV001848707	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675752	SCV000801472	benign	not provided	2017-04-18	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001276283	SCV001462392	benign	Citrullinemia	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078946	SCV001917776	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078946	SCV001930316	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078946	SCV001957284	benign	not specified		no assertion criteria provided	clinical testing