Submissions for variant NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)

gnomAD frequency: 0.00019  dbSNP: rs138695961

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153532	SCV000203060	uncertain significance	not provided	2013-12-23	criteria provided, single submitter	clinical testing
Invitae	RCV001083792	SCV001025277	likely benign	Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V	2024-01-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965144	SCV004778604	likely benign	NAGLU-related disorder	2023-08-22	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153532	SCV001978449	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153532	SCV001980208	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831957	SCV002093262	likely benign	Mucopolysaccharidosis, MPS-III-B	2020-09-17	no assertion criteria provided	clinical testing