Submissions for variant NM_001174089.2(SLC4A11):c.1043-15A>C

gnomAD frequency: 0.43502  dbSNP: rs3803953

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248350	SCV000314825	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000348880	SCV000433564	benign	Corneal dystrophy	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.
Genome-Nilou Lab	RCV001543233	SCV001761760	benign	Corneal dystrophy-perceptive deafness syndrome	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543234	SCV001761761	benign	Congenital hereditary endothelial dystrophy of cornea	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001683121	SCV001896530	benign	not provided	2020-04-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001683121	SCV002485957	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001683121	SCV005309375	benign	not provided		criteria provided, single submitter	not provided