Submissions for variant NM_000341.4(SLC3A1):c.1332+7C>T

gnomAD frequency: 0.61143  dbSNP: rs3738984

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000340572	SCV000430670	benign	Cystinuria	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.
Invitae	RCV000340572	SCV001723079	benign	Cystinuria	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001725168	SCV001960694	benign	not provided	2019-08-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000340572	SCV002057049	benign	Cystinuria	2021-07-15	criteria provided, single submitter	clinical testing