Submissions for variant NM_002076.4(GNS):c.363G>A (p.Lys121=)

gnomAD frequency: 0.09139  dbSNP: rs2230291

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079973	SCV000111864	benign	not specified	2014-06-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079973	SCV000308698	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000608951	SCV000380842	benign	Mucopolysaccharidosis, MPS-III-D	2018-01-13	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.
GeneDx	RCV000079973	SCV000714021	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.
Invitae	RCV000608951	SCV001721677	benign	Mucopolysaccharidosis, MPS-III-D	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000608951	SCV001750039	benign	Mucopolysaccharidosis, MPS-III-D	2021-07-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608951	SCV000733184	benign	Mucopolysaccharidosis, MPS-III-D		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675669	SCV000801372	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001274496	SCV001458725	benign	Sanfilippo syndrome	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079973	SCV001925000	benign	not specified		no assertion criteria provided	clinical testing