Submissions for variant NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)

gnomAD frequency: 0.00455  dbSNP: rs115166595

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000365807	SCV000331036	benign	not specified	2016-02-19	criteria provided, single submitter	clinical testing
Invitae	RCV000652883	SCV000774755	benign	Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001126735	SCV001285973	likely benign	Mucopolysaccharidosis, MPS-III-B	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV001532303	SCV001747799	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	NAGLU: BP4, BP7, BS2
Natera, Inc.	RCV001126735	SCV001463391	benign	Mucopolysaccharidosis, MPS-III-B	2020-09-16	no assertion criteria provided	clinical testing