Submissions for variant NM_000503.6(EYA1):c.840C>A (p.Ile280=)

gnomAD frequency: 0.00286  dbSNP: rs55972891

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150676	SCV000198032	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Ile280Ile in Exon 09 of EYA1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.5% (32/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs55972891)."
Eurofins Ntd Llc (ga)	RCV000150676	SCV000344372	benign	not specified	2016-08-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000291346	SCV000474845	benign	Otofaciocervical syndrome 1	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	RCV000346226	SCV000474846	benign	Branchiootic syndrome 1	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	RCV000991975	SCV000724162	likely benign	not provided	2021-04-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000991975	SCV001143890	benign	not provided	2018-11-27	criteria provided, single submitter	clinical testing
Invitae	RCV002055970	SCV002340695	benign	Melnick-Fraser syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498693	SCV002801996	likely benign	Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1	2021-09-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000991975	SCV004155935	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	EYA1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003975174	SCV004786719	benign	EYA1-related condition	2019-04-12	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000991975	SCV001930741	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000991975	SCV001966636	likely benign	not provided		no assertion criteria provided	clinical testing