Submissions for variant NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=)

gnomAD frequency: 0.90200  dbSNP: rs10063424

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249027	SCV000311875	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304739	SCV000456211	benign	Autosomal recessive nonsyndromic hearing loss 4	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	RCV001651199	SCV001863386	benign	not provided	2018-11-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000304739	SCV001933584	benign	Autosomal recessive nonsyndromic hearing loss 4	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV001651199	SCV002434049	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000249027	SCV001743019	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000249027	SCV001952530	benign	not specified		no assertion criteria provided	clinical testing