Submissions for variant NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=)

gnomAD frequency: 0.09317  dbSNP: rs41281860

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254477	SCV000314829	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000375014	SCV000433556	benign	Corneal dystrophy	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516713	SCV001725039	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543186	SCV001761702	benign	Corneal dystrophy-perceptive deafness syndrome	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001543187	SCV001761703	benign	Congenital hereditary endothelial dystrophy of cornea	2021-07-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001516713	SCV005309369	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001543186	SCV002090935	benign	Corneal dystrophy-perceptive deafness syndrome	2019-11-21	no assertion criteria provided	clinical testing