Submissions for variant NM_000274.4(OAT):c.648+14A>G

gnomAD frequency: 0.81973  dbSNP: rs9422807

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153614	SCV000203161	benign	not specified	2013-12-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346897	SCV000361343	benign	Ornithine aminotransferase deficiency	2018-01-12	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	RCV000843399	SCV000985433	benign	not provided	2018-06-19	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000346897	SCV001729165	benign	Ornithine aminotransferase deficiency	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000346897	SCV001754983	benign	Ornithine aminotransferase deficiency	2021-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000843399	SCV005322485	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153614	SCV001740382	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153614	SCV001957537	benign	not specified		no assertion criteria provided	clinical testing