Submissions for variant NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)

gnomAD frequency: 0.02454  dbSNP: rs34885252

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000280164	SCV000343402	benign	not specified	2016-06-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000186222	SCV000429357	benign	Primary hyperoxaluria, type I	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.
Invitae	RCV001513320	SCV001720918	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001513320	SCV001861447	benign	not provided	2019-01-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28969594)
Clinical Biochemistry Laboratory, Health Services Laboratory	RCV000186222	SCV000239546	uncertain significance	Primary hyperoxaluria, type I	2014-11-27	no assertion criteria provided	research
Natera, Inc.	RCV000186222	SCV002076451	benign	Primary hyperoxaluria, type I	2019-10-17	no assertion criteria provided	clinical testing