Submissions for variant NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)

gnomAD frequency: 0.37885  dbSNP: rs9493627

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000037882	SCV000051541	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037882	SCV000061544	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Gly277Ser in Exon 11 of EYA4: This variant is not expected to have clinical sign ificance because it has been identified in 48.2% (1802/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs9493627).
PreventionGenetics, part of Exact Sciences	RCV000037882	SCV000309981	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247179	SCV000317616	benign	Cardiovascular phenotype	2015-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000276894	SCV000460375	benign	Dilated cardiomyopathy 1J	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.
Illumina Laboratory Services, Illumina	RCV000332466	SCV000460376	benign	Autosomal dominant nonsyndromic hearing loss 10	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	RCV000037882	SCV000730199	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037882	SCV001361932	likely benign	not specified	2020-08-11	criteria provided, single submitter	clinical testing
Invitae	RCV000276894	SCV001716605	benign	Dilated cardiomyopathy 1J	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000332466	SCV001933541	benign	Autosomal dominant nonsyndromic hearing loss 10	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000276894	SCV001933552	benign	Dilated cardiomyopathy 1J	2021-08-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490514	SCV002802506	benign	Dilated cardiomyopathy 1J; Autosomal dominant nonsyndromic hearing loss 10	2022-03-30	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037882	SCV001741547	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037882	SCV001959568	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037882	SCV001976234	benign	not specified		no assertion criteria provided	clinical testing