Submissions for variant NM_153006.3(NAGS):c.1451+9T>C

gnomAD frequency: 0.93334  dbSNP: rs228773

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250494	SCV000316248	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282299	SCV000403112	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000282299	SCV001732881	benign	Hyperammonemia, type III	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000282299	SCV001761536	benign	Hyperammonemia, type III	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000509443	SCV001869338	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000509443	SCV005253325	benign	not provided		criteria provided, single submitter	not provided
GenomeConnect, ClinGen	RCV000509443	SCV000607295	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Clinical Genetics, Academic Medical Center	RCV000250494	SCV001922915	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000250494	SCV001968409	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000282299	SCV002093359	benign	Hyperammonemia, type III	2019-11-16	no assertion criteria provided	clinical testing