Submissions for variant NM_014251.3(SLC25A13):c.1374G>A (p.Val458=)

gnomAD frequency: 0.00605  dbSNP: rs115266882

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000865135	SCV001006054	benign	Citrin deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001165296	SCV001327476	benign	Citrullinemia type II	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	RCV001672969	SCV001889712	benign	not provided	2019-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001672969	SCV005265305	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001277070	SCV001463805	benign	Late-onset citrullinemia	2020-09-16	no assertion criteria provided	clinical testing