Submissions for variant NM_153006.3(NAGS):c.182A>G (p.Glu61Gly)

gnomAD frequency: 0.01375  dbSNP: rs113134544

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442548	SCV000239029	benign	not provided	2018-04-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363310	SCV000403102	benign	Hyperammonemia, type III	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000442548	SCV000511668	benign	not provided	2017-01-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000363310	SCV000756201	benign	Hyperammonemia, type III	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000442548	SCV005251142	benign	not provided		criteria provided, single submitter	not provided
Elsea Laboratory, Baylor College of Medicine	RCV000363310	SCV001424217	likely benign	Hyperammonemia, type III	2020-04-01	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000363310	SCV002093339	benign	Hyperammonemia, type III	2019-12-05	no assertion criteria provided	clinical testing