Submissions for variant NM_002076.4(GNS):c.253-10del

dbSNP: rs201654719

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000614994	SCV000732054	likely benign	not specified	2017-02-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625327	SCV000744951	benign	Mucopolysaccharidosis, MPS-III-D	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV000625327	SCV001095822	benign	Mucopolysaccharidosis, MPS-III-D	2024-01-31	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675670	SCV000801373	likely benign	not provided	2017-11-03	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000675670	SCV001742900	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000614994	SCV001921300	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001829732	SCV002091726	benign	Sanfilippo syndrome	2019-09-25	no assertion criteria provided	clinical testing