Submissions for variant NM_000487.6(ARSA):c.*96A>G

gnomAD frequency: 0.05120  dbSNP: rs6151429

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180167	SCV000232557	other	not provided	2018-07-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000246300	SCV000304452	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020309	SCV000439425	benign	Metachromatic leukodystrophy	2018-03-06	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000180167	SCV000511743	benign	not provided	2016-10-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000020309	SCV000627134	other	Metachromatic leukodystrophy	2019-01-08	criteria provided, single submitter	clinical testing
Mendelics	RCV000020309	SCV001141459	benign	Metachromatic leukodystrophy	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000020309	SCV001737363	benign	Metachromatic leukodystrophy	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000180167	SCV001834431	benign	not provided	2021-11-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30026549, 26577183, 21648305, 2574462, 8897113, 8095918, 29961769)
Breakthrough Genomics, Breakthrough Genomics	RCV000180167	SCV005277400	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000003190	SCV000023348	pathogenic	Arylsulfatase A pseudodeficiency	1998-08-01	no assertion criteria provided	literature only
GeneReviews	RCV000020309	SCV000040684	not provided	Metachromatic leukodystrophy		no assertion provided	literature only
SingHealth Duke-NUS Institute of Precision Medicine	RCV000020309	SCV000853149	uncertain significance	Metachromatic leukodystrophy	2017-06-07	no assertion criteria provided	curation
Natera, Inc.	RCV000020309	SCV001456226	uncertain significance	Metachromatic leukodystrophy	2020-01-07	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000246300	SCV001739530	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV000020309	SCV001749887	not provided	Metachromatic leukodystrophy		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 10-15-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000246300	SCV001929409	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000246300	SCV001959167	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000246300	SCV001972175	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000180167	SCV002034648	likely benign	not provided		no assertion criteria provided	clinical testing