Submissions for variant NM_000048.4(ASL):c.602+13C>T

gnomAD frequency: 0.04315  dbSNP: rs12536292

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078014	SCV000109852	benign	not specified	2015-12-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078014	SCV000301631	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362818	SCV000469777	benign	Argininosuccinate lyase 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000362818	SCV001730790	benign	Argininosuccinate lyase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000362818	SCV001748544	benign	Argininosuccinate lyase deficiency	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001647047	SCV001859360	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001647047	SCV005270076	benign	not provided		criteria provided, single submitter	not provided