Submissions for variant NM_012188.5(FOXI1):c.1014G>A (p.Ala338=)

gnomAD frequency: 0.00841  dbSNP: rs55685928

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000946898	SCV001093055	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000946898	SCV001143960	benign	not provided	2019-06-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001158230	SCV001319850	benign	Autosomal recessive nonsyndromic hearing loss 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000946898	SCV002006133	likely benign	not provided	2021-05-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000946898	SCV005221988	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000946898	SCV002033995	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001796824	SCV002037923	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003913217	SCV004731879	benign	FOXI1-related disorder	2019-05-13	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).